World Allergy Day 2026

World Allergy Day is celebrated on July 4th to educate society about how our immune system reacts to harmless substances.

• Respiratory symptoms, such as difficulty breathing, congestion, or sneezing.
• Skin signs, such as hives, redness, or swelling.
• Eye problems, such as itching or conjunctivitis.
• Abdominal discomfort, such as abdominal pain or nausea.

ALLERGY SYMPTOMS

ALLERGENS

In some ways, the symptoms depend largely on the specific allergy you have.

• For example, respiratory symptoms are associated with allergies to pollen, dust, pet dander, or mold.
• However, the effects on the digestive system are more closely linked to food allergies.
• Although these can also manifest on the skin, each person’s experience may vary.

On World Allergy Day, the importance of people being able to recognize these symptoms in order to control them is also highlighted.

Respiratory allergy

Respiratory allergies arise as a result of an abnormal immune response to contact with certain environmental substances that are harmless to most people, causing inflammation of the eyes, nose, throat, or bronchi.

As a reaction, the immune system produces antibodies that release chemicals, such as histamine, which trigger allergic symptoms.

What is respiratory allergy?

Respiratory allergies are a very common chronic disease that can worsen over time, but there is treatment that relieves symptoms.

• This abnormal functioning of the immune system can have a genetic cause.
• Exposure to irritants and environmental pollutants can also be triggers.
• Having a family history of allergies is a risk factor.

It is also one of the main triggers of asthma; in fact, 80% of asthma cases have an allergic origin.

Respiratory allergy, which can manifest itself in the form of rhinitis, conjunctivitis or asthma, is the most common allergy.

What causes these allergic symptoms are dust mites, pollen from trees and plants, humidity fungi, and animal epithelium; although medications and foods can also cause these symptoms.

These allergens are present in the air we breathe and are responsible for the appearance of symptoms in the airways, whether in the form of symptoms in the nose, eyes or bronchi.

TYPES OF ALLERGENS

• The main culprits are seasonal allergens, those present at certain times of the year, such as tree and plant pollen.
• However, we also find perennial allergens, meaning those present year-round, such as dust mites, mold, and pet dander from animals like cats and dogs.

Depending on the affected area in the respiratory tract, this allergy can manifest itself in different ways, such as allergic rhinitis, allergic conjunctivitis, or bronchial asthma.

Symptoms of Respiratory Allergy

Immunotherapy

treatment that helps modify the allergy

Immunotherapy, also known as allergy shots, is the only treatment capable of changing the course of respiratory allergies.

Its goal is to reduce the patient’s sensitivity to allergens, which improves symptoms and reduces the need for medication.

It also helps prevent allergic rhinitis from progressing to asthma.

It is an individualized treatment that should always be prescribed by an allergist.

Depending on the patient’s symptoms, a series of allergic tests, both skin and respiratory, will be performed and preventive treatment will be decided, with medications or immunotherapy, whichever is most appropriate in each case.

Respiratory allergies can develop complications such as asthma, sinusitis, sleep apnea, or ear or lung infections.

Respiratory allergies can have a significant impact on respiratory health and quality of life.

However, taking steps to prevent them can help minimize their adverse effects.

Here are some recommendations:

• Identify your triggers—animals, foods, plants, or environments that trigger a reaction in your body. Once identified, you can take steps to minimize your exposure to them.
• Maintain good hygiene, both personal and at home, and ventilate the spaces where you live.
• Using air purifiers with HEPA filters can help remove allergens from the air, while high-efficiency filters in heating and air conditioning systems can reduce allergen exposure.
• Avoid outdoor allergens. If you have pollen or mold allergies, try to avoid spending a lot of time outdoors during peak allergen seasons.
• Seek help from a specialist if you notice any abnormalities in your body. They can evaluate your symptoms, perform tests, and recommend appropriate treatment, such as allergy medications or immunotherapy.

On World Allergy Day, July 4, 2025, we send a clear message:

Listen to your body, don’t normalize the symptoms, and get tested if you have any suspicions.

Detecting an allergy early improves your well-being and allows you to act correctly in risky situations.

Sources: Hospital Sant Joan de Deu, Quiron salud

La entrada Respiratory allergy se publicó primero en Centro Andaluz Alfa-1.

February 28, 2025

The last day of February is celebrated as World Rare Disease Day.
The day on which it is celebrated was chosen because it is a month different from the others, due to its exceptional nature.

It was proclaimed by EURORDIS (European Organisation for Rare Diseases) in 2008, with the aim of improving access to treatment, as well as medical research.
Since then, this day is celebrated every year, on the last day of February, with a new and original motto.

This year the motto is “people”, which tries to put people at the centre of the message and highlight the impact that living with a rare disease has, which is unknown to most.
Therefore, it is intended to emphasise that behind every campaign, every need, every disease, every symptom… behind all of this there are people and families.

History of Rare Diseases

Its history dates back to the 1980s, when rare diseases have gradually become a priority in health programs and in public opinion.
They are defined as those with a prevalence of less than 1:2,000 individuals.

In general, they are chronic, debilitating diseases with more than 80% of genetic origin.

Rare diseases in numbers

It is estimated that around 80% of rare diseases are of genetic origin and less frequently are the result of infectious, immunological, degenerative or proliferative diseases.
Furthermore, a very small number of them, no more than 400, have treatment available.

Why are they rare diseases?

Not only is there less medical knowledge because of their low individual prevalence, but from a medical management perspective, rare diseases are characterized by the large number and diversity of conditions and symptoms.
Not only do they vary from condition to condition, but they can also vary within the same condition.

Diagnosis

Diagnoses are usually late, in general terms, rare diseases are underdiagnosed due to their low prevalence, so there is less knowledge and little specificity.
This is associated with an increase in cost, and we know that it further harms the quality of life of patients and their families, since they must consult several specialist opinions before reaching an accurate diagnosis.
Because many of them are genetic, tests are carried out on a preventive basis, since many rare diseases appear at early ages.
Genetic analysis in patients who may apparently suffer from a rare disease requires precision.

In general, the vast majority of times it is based on a molecular study, either of the specific gene associated with the disease in question, or of panels that include the different genes that may eventually be responsible for a certain phenotype and that allow the underlying molecular alteration to be accurately identified.

As mentioned, the symptoms or pathologies can be very heterogeneous.
As a result, the intervention of several medical specialists and subspecialties is required.
If it is suspected that they may be related to multiple genes and mutations responsible for the condition, as well as polymorphisms that regulate their expression, this great complexity can be explained.

Genetic counseling

Genetic counselling is the provision of information from specialists to patients and family members who have a genetic disease or are at risk of having one.
In this way, people can decide on their reproductive alternatives.

Networking

The importance of networking in research

There are numerous research centres around the world, and most of us are interconnected, as we have a common goal: finding solutions adapted to specific problems.
Otherwise, people with a rare disease would be harmed in two ways:
Presenting a severe and possibly chronic disease.
On the other hand, being underdiagnosed and having difficulty accessing treatments.

We are in contact with all the Alfa 1 Centres of Excellence located in Spain, such as:

• Sevilla Alpha 1 Centre
• Galego Alpha 1 Centre
• Catalunya Alpha 1 Centre
• Spain Alpha Centre

In addition, we are part of some scientific-medical groups that are aligned with international research centers dedicated to the study specific diseases, including Alpha 1 Antitrypsin Deficiency.
In this case, we collaborate with some such as:

• SEPAR
• Grifols
• REDAAT
• Orphanet
• EARCO

Patient Associations

Last but not least, patient associations are the way for patients and their family members or caregivers to find the answer to many of their problems.
The low prevalence forces them to join forces and empower themselves to face the different challenges associated with living with one of these conditions.
In addition, patient associations are necessary, since in order to meet objectives, a coordinated effort is imperative to achieve significant changes and be considered by researchers and the medical community.
On the other hand, it is also key to be heard by those in charge of managing health policies.
Patient organizations intervene in different aspects:
From the financing of research to the regulatory aspects of the marketing of medicines, including the production of reliable educational and informational material; as well as the design of public policies and the implementation of projects.

Conclusions

In general terms, it is understood that regardless of the number of rare diseases that exist, patients and their families are governed by a common denominator:
The difficulties they face every day to lead a life in normal conditions.
So below we show the major challenges that arise in their daily lives:

1. Lack of accurate information about the disease, as well as places to find support and assistance.
2. Less rigorous scientific knowledge, and therefore, less investment in strategies to provide greater accessibility to therapies, treatments and specialists.
3. Underdiagnosis, due to lack of knowledge of the disease and the late appearance of symptoms.
4. Lack of health care, since these require multidisciplinary assistance, that is, psychologists, therapists, nutritionists… many of whom are excluded from the public health system.
5. Treatments and medications that are difficult to access, added to the additional expense for specific needs that arise when suffering from one of these diseases.
6. Social consequences due to stigmatization, whether at work, schooling, insurance, recreational or sentimental life.

Source: Elsevier

La entrada Rare Disease Day se publicó primero en Centro Andaluz Alfa-1.

Health and other forms of smoking

The fight against smoking continues. The industry is reinventing itself and creating new products that, despite their harmless appearance, are as harmful or even more so than conventional cigarettes.

Other forms of smoking

Francisco Casas, a pulmonologist at the San Cecilio Clinic, warns of this new epidemic of young faces and is very concerned about the general lack of knowledge surrounding vapers, hookahs and electronic cigarettes.

The number of young people who smoke has dropped by a third since the beginning of this century, and yet we cannot be happy. Why?

Because, although the prevalence of conventional tobacco consumption has been reduced, the consumption of other emerging forms of smoking has been increasing and now exceeds that of conventional tobacco among adolescents.

19.2% of young people between 14 and 18 years old smoke or consume some tobacco derivative. But vapers are the preferred choice for one in five.

Followed by hookahs, which are used by 14.3%, while 13.1% opt for conventional cigarettes.

It was thought that electronic cigarettes or vapers could be a less harmful substitute than tobacco, but this is not the case.

E-cigarettes are not harmless for active or passive smokers.

E-cigarette and vape smoke contain the same harmful constituents as conventional cigarettes: volatile organic compounds, hydrocarbons, heavy metals and may contain nicotine.

And they don’t help you quit smoking either?

They do not help you quit smoking or consume less cigarettes. In addition, these devices are the gateway to nicotine addiction.

What happens to our lungs when we vape?

In adolescents, lung development is slowed down, which usually forms in girls until the age of 18 and in boys until the age of 22.

In addition, it causes irritation and inflammation of the respiratory mucosa: chronic bronchitis, asthma, bronchiolitis and interstitial lung diseases.

Moreover, it destroys the alveoli and produces cellular mutations with the development of lung cancer.

Is it necessary to have a very strong habit to cause damage to the body?

As with conventional tobacco consumption, the number of cigarettes smoked daily and the number of years of consumption are factors involved in greater damage to the body.

However, there are factors linked to each individual that can make them more susceptible, such as genetic factors for lung cancer or asthma or chronic obstructive pulmonary disease.

They also have a very strong social component. A clear example is hookahs, which have become widespread in nightlife… Are they safe?

Not at all, they are even more harmful than conventional tobacco.

Is it true that a hookah session is equivalent to inhaling 200 times the smoke of a cigarette?

A single puff is almost equal to the volume of smoke inhaled by an entire cigarette.

The volume of smoke inhaled during a typical hookah session is approximately 90 liters, which is equivalent to 200 puffs, compared to the 0.5 liters inhaled when smoking a cigarette.

And yet there is more social permissiveness. Why?

Much of the blame for this permissiveness lies with society’s ignorance, and in particular, that of parents and educators. Sometimes we are carried away by the tobacco industry’s messages about its safety and supposedly lower addictive capacity.

After 30 years of prevention campaigns or restrictive laws, tobacco consumption has been reduced.

How many years do you think it will take now to minimize the impact of these new harmful habits?

I couldn’t tell you how many, certainly many, more than ten years and everything will depend on the messages that are transmitted to the general population and to young people in particular through the media and social networks.

It will also depend on the measures taken by public administrations to equate the consumption of these products with conventional tobacco, establishing the same prohibitions on their consumption by minors and for smoke-free spaces.

The active fight against the tobacco industry and its false messages is another of the battles.

Finally, tell a young person reading this what benefits they might notice when they quit smoking.

The first and most immediate thing you will notice is the decrease or disappearance of your cough; you will have a greater ability to practice sports and your oral health will improve.

In addition, tobacco accelerates cellular aging, specifically of the skin, and promotes hair loss, which will improve. Getting rid of nicotine addiction is another great advantage of quitting.

Source: Centro Andaluz Alfa 1, Ideal Granada

La entrada Other forms of smoking se publicó primero en Centro Andaluz Alfa-1.

On the occasion of the celebration of liver cancer day and to give it greater visibility, as well as raise awareness among the population about the knowledge of this disease in relation to others, we bring you this news.

Relationship between the liver and AATD

AATD is the most common hereditary disease in Spain and in its most severe forms, it can cause damage to the lungs and liver.

Not all people with AAT deficiency suffer from liver problems, since in many cases it is mild and the patient does not even know they have it.

Alpha-1 Antitrypsin is a protein produced in the liver and its main function is to protect the lung from degradation and inflammation caused by infections or external agents.

When DAAT exists, this protein remains stagnant in the liver, which produces two consequences: it damages this organ and, by not passing into the bloodstream, it does not reach the lungs and leaves them unprotected.

The most common disease is cirrhosis, where severe scarring occurs in the liver; this can appear even in children and newborns due to ATT deficiency.

Diseases related to DAAT and life cycle

The development of hepatocellular carcinoma has been described in 2-3% of elderly ZZ individuals, or Wegener’s disease in 2-3%, and neutrophilic panniculitis.

This corresponds to 1 in 100 Pi*ZZ in the UK registry and 1 in 1,000 in the American registry.

Probability of incidence

Severe alpha 1-antitrypsin (AAT) deficiency is a complex monogenic disorder, with great variability in its clinical presentation, percentage of affected individuals and age of onset of diseases such as COPD.

Consequences of alpha 1 antitrypsin deficiency in the liver

Hepatic disease in ZZ homozygous individuals is of variable severity and is due to the formation of protein polymers, which cannot be excreted by the hepatocyte and accumulate inside it (90% in the Z mutation).

Up to 70% of ZZ newborns may present abnormal liver function tests, but only 10% develop prolonged neonatal colostasis and 2.5% of them develop childhood liver cirrhosis.

Consequences of alpha 1 antitrypsin deficiency in the liver

In adults, the risk of liver cirrhosis depends on sex and age, being more pronounced in ZZ men over 50 years of age (20-40%) who, in addition, have a higher risk of hepatocellular carcinoma, both in cirrhotic and non-cirrhotic livers. cirrhotics, and is independent of their history of hepatitis B (HBV) or C (HCV) virus infection.

Liver cirrhosis

Liver diseases linked to Alpha-11 Antitrypsin Deficiency are:

1. Chronic hepatitis
2. Cirrhosis
3. Liver carcinoma.

It is not yet known why some individuals with Alpha-1 Antitrypsin Deficiency develop liver damage and others do not.

Liver lesions are related to the retention and polymerization of AAT in the liver in those affected with the PiZ allele; Furthermore, it usually occurs in childhood.

It is diagnosed when there is liver dysfunction that cannot be attributed to any other cause.

INCIDENCE IN CHILDREN AND ADOLESCENTS

Frequency

The good news is that in most cases these alterations are stable during childhood and adolescence, without becoming serious. 

Only in certain cases can progressive liver damage occur that requires transplantation in children.

It is estimated that between 10-15% of children with the two defective ZZ genes develop clinical liver disease before the age of 20 years. 

Liver disease can also occur in adults and become severe in middle age.

Symptoms of Alpha 1 Antitrypsin Deficiency

Adult subjects with severe AATD usually present respiratory symptoms, but with early onset, starting at age 35 in smokers and after age 45 in non-smokers.

1. The most common symptom is dyspnea on exertion, which appears in 70-90% of patients.
2. Other common symptoms are cough (42%) and chronic expectoration (46%), related to the presence of bronchiectasis (23% of ZZ individuals).
3. Wheezing can be persistent or appear during exacerbations in up to 70-80% of cases.
4. Regarding the physical examination, there is no data that is specific to DAAT.

Recomendaciones

To finish, we only advise you on some simple guidelines such as quitting smoking, exercising daily, following a balanced diet, avoiding processed foods; and finally carry out periodic monitoring by medical experts.

Sources: Centro Andaluz Alfa 1, Alfa 1 España

La entrada Liver and AATD se publicó primero en Centro Andaluz Alfa-1.

For plasma donation awareness week, we have compiled some information that we think you might find interesting.

History

In 1994, a team of surgeons applied autologous plasma to the spongy tissue of a mandibular bone.
Autologous platelet-rich plasma (PRP) is a possible treatment for wound healing because it has components such as fibrin and high concentrations of growth factors (PRGF) that help in healing and bone regeneration.

Two years later, scientists Mark and Cols concluded that PRP increased the concentration of platelets (cells responsible for healing wounds) in the tissues, and regenerated the cells due to its enormous reserves of bioactive proteins.

As a result, the bone was able to consolidate much more quickly than with other treatments.

What is?

It is a liquid component of the blood that contains valuable information about the entire organism.

We could say that it is a biological treasure that transports essential elements, including blood cells, nutrients and, especially, proteins, which it distributes to all organs.

This unique vital liquid can potentially be the basis for the treatment of many diseases and, therefore, be key to improving people’s quality of life.

There are five types of cells in the blood:

1. Red blood cells
2. White blood cells
3. Platelets
4. Organic compounds
5. Electrolytes

What is plasma made of?

Plasma is a yellowish, almost transparent component of blood.

• Represents 55% of the total volume of blood.
• Water makes up 90% of the volume of plasma.
• Proteins represent 9% of the total plasma and are responsible for ensuring the proper functioning of our body.
• 1% are nutrients and gases.

Plasma proteins

The proteins found in plasma perform an important function in our system, and we mainly find:

1. Albumin: transports hormones and drugs and takes them to the tissues.
2. Coagulation factors: responsible, together with platelets, for stopping bleeding when we get a wound.
3. Immunoglobulins: serve to defend us from infections.

What is plasma used for?

In most cases, it is used to treat people who have suffered severe burns, or those who need a transfusion due to a serious accident or illness.

In general, it is a great discovery that saves the lives of thousands of people every day, and it is especially used for people with alpha-1 antitrypsin deficiency (AATD), immunoglobulin deficiency, autoimmune diseases and other rare diseases.

To treat these people, plasma is basically transfused from healthy people to patients to improve the immune response or the blood clotting capacity. To treat a patient with AATD for one year, between 130 and 1,200 donations are required.

DONATE PLASMA, SAVE LIVES

How much plasma does a person have?

Normally, a person weighing 70 kilos has about 3 liters of plasma.

Donation

Donation consists of extracting blood, separating the blood cells using a cell separator, retaining the plasma and returning the rest to the donor by the same means.

It is frozen at -40º until it is transfused to patients or manufactured as drugs.

How long does it take? About 45 minutes.

How often can you donate?

As it is mostly water, the donor’s recovery is very fast and donations can be more frequent.

You can donate every 15 days.

Although if you have given blood before, you must always wait a month for your next donation.

To donate plasma, the same requirements must be met as to be a blood donor:

1. Be between 18 and 70 years old
2. Weigh more than 50 kilos
3. Be in good health.
4. If you are a woman, you must not be pregnant.

What type of blood is most suitable?

All blood types are valid, although group AB is the universal plasma donor, compatible with all recipients.

We need everyone’s collaboration, it doesn’t cost anything, but you will get a huge reward for helping so many people improve their quality of life.

Source: Centro Andaluz Alfa 1

La entrada Plasma se publicó primero en Centro Andaluz Alfa-1.

Advances in the treatment of alpha-1 antitrypsin deficiency and future therapies

In June 2024, the meeting of the Spanish Network for Research on Alpha-1 Antitrypsin Deficiency (REDAAT) took place, during the 57th SEPAR Congress that took place in Valencia from June 6 to 8.

THE CURE IS THE FUTURE

Review of new strategies for future AATD therapies

On this occasion, Francisco Casas presented during the REDAAT meeting the “Advances in the treatment of DAAT and future therapies”.

During his presentation he reviewed the new strategies for the treatment of AATD, such as:

1. Neutrophil elastase inhibitors
2. Increasing exogenous AAT (existing IV replacement therapy with human AAT, advances in replacement therapy with human AAT and recombinant AAT (rAAT) by IV or inhaled route)
3. Increasing endogenous AAT (liver transplant and increasing AAT release by the hepatocyte)
4. Gene therapy
5. Treatment of liver disease.
6. Other strategies such as reducing lung inflammation with antioxidants or hyaluronic acid, and promoting alveolar regeneration with all-trans retinoic acid have failed.

Neutrophil elastase inhibitors (NE)

They offer an alternative to AAT augmentation therapy that does not rely on intravenous or nebulized routes.

One such drug is alvelestat (Mereo), which has recently completed a phase 2/3 trial, known as ASTRAEUS, of reducing the biomarkers desmosine and Aα-val360, in urine.

Another NE inhibitor, PHP-303 (pH Pharma) has completed phase 1 trials, with a promising safety profile.

AAT Increase

It is based on the derivation of human plasma donations.

It is an effective and safe treatment, but it depends on human donors, it is expensive and its administration is intravenous in a day hospital, and requires about 2 hours for its infusion.

The synthetic production of AAT or NE inhibitors could reduce this limitation; in addition, the treatment until now has been intravenous, but only a minority of the infused AAT reaches the lung.

On the other hand, an inhaled route can improve efficiency, while its administration is less invasive to administer. In addition, dosing escalation strategies vary in the literature, with equivocal evidence between regimens [5,14,17].

Finally, this therapy only addresses lung disease, that is, approaches aimed at treating liver disease are required if we want to treat all patients adequately.

The current status of drug development for AATD is summarized in the following table.

SPARTA Trial

The SPARTA trial of 60 mg/kg versus 120 mg/kg human AAT is awaiting results, which are anticipated to be available in 2026.

Another novel strategy is the administration of human AAT subcutaneously (ClinicalTrials.gov Identifier: NCT04722887), which will allow for home administration via infusion pump.

Given the limited availability of human AAT, research is underway to synthesize functional AAT, called recombinant AAT (rAAT).

This also increases the potential to create a maximally efficient AAT protein.

INBRX-101 (Inhibrx) is a rAAT Fc fusion protein that has completed Phase I trials showing normal serum levels of AAT in 24 patients with AATD, with an acceptable safety profile.

Inhaled AAT

Eliminates the need for intravenous access and allows for administration directly to the site of interest, which is the lung.

Less drug is needed to achieve the same lung tissue concentration.

An inhaled human AAT product (KAMADA-AAT, Kamada), has completed Phase 2 trials.

Results included significantly higher functional AAT levels in epithelial lining fluid (ELF) at doses of 80 mg and 160 mg.

Corrective drugs

AAT-correcting drugs aim to change the shape of the misfolded dysfunctional AAT protein, thereby improving its function.

In addition, they also prevent the polymerization of AAT in the liver, which is the main cause of AATD liver disease.

Trials of these drugs are in the early stages [33–35]. VX-864 (Vertex) showed a significant improvement in functional AAT levels versus placebo.

(Mean difference +2.2 to +2.3 μmol/L across 3 doses, p < 0.0001 in all 3 cases) in a phase 2 trial of 44 participants.

ADVANCE Research

Gene therapy has the potential to act by altering DNA or RNA to produce functional AAT instead of misfolded proteins.

The ADVANCE study is a phase 1/2 trial of ADVM-043 (Adverum), which uses a viral gene transfer vector to deliver a functional gene to the liver of 6 patients.

Functional human AAT is thus expressed, but serious adverse events have been reported.

Nucleotide editing therapies

The development of nucleotide editing therapies is a very active area: BEAM-302 (Beam) is described as a “liver-targeted lipid nanoparticle formulation of base editing reagents.

It has reportedly been able to correct alterations in the SERPINA1 gene in mouse models, with increases in serum AAT and a reduction in liver polymers.

Similarly, Intellia has developed NTLA-3001, a CRISPR-mediated targeted gene editing therapy.

Wave Life Sciences and GSK have collaborated to develop WVE-006, an RNA editing oligonucleotide that offers to correct single nucleotide mutation at the mRNA stage.

Fazirsiran (Takeda)

It is described as an RNA interference therapy, which causes degradation of AAT RNA, thus reducing AAT production from hepatocytes, polymerization and subsequent liver disease.

In this case, in the phase 2 trials, liver biopsies were taken from 15 patients with PiZZ AATD and liver disease at baseline and at 12 weeks, with a median reduction of -83.3% in AAT.

Serum liver enzymes were also reduced in all patients, and fibrosis regression was observed in the majority. The safety profile is good.

Ongoing trials

Phase 3 trials in larger samples are ongoing.

Another RNA interference therapy, belcisiran (Dicerna), is also in phase 2 trials.

Future therapeutic therapies AATD

En la siguiente figura se resumen las diferentes dianas terapéuticas en la DAAT.

Key points

1. Currently, IV AAT therapy remains the only disease-modifying and well-tolerated pharmacological intervention available for AATD.
2. In the short term, the use of chaperones could be a promising treatment, as well as new molecules that interfere with RNA, inhibitors of AAT or neutrophil elastase, and inhaled AAT that may improve efficiency while being easier to administer.
3. In the long term, there is great potential for gene therapy:
   • The use of dual-function vectors that inhibit Z-AAT gene expression and promote M-AAT biological activity is a viable approach for the correction of pulmonary and hepatic manifestations related to AATD.
   • Co-administration of AAT viral vectors and capsid-specific Treg cells is a way to avoid immune responses, improving their efficiency and reducing adverse events resulting from their administration.
   • Gene editing strategies, including the use of RNA silencers and CRISPR-Cas9, are very promising for the correction of specific mutations in the SERPINA1 gene.
4. Strategies to recreate whole organs for transplantation, or repopulation with hepatocytes expressing corrected AAT would be very useful, as they would allow simultaneous treatment of lung and liver disease associated with AATD.
5. Homogeneous and robust evaluation criteria for all these therapies are needed, which assess the relationship between the biological activity of AAT:
   • Rate of progression of lung parenchymal and extracellular matrix degradation.
   • Inflammatory state of the lung.
   • Clinical, functional and imaging efficacy.
6. It is necessary to identify new biomarkers that evaluate the levels of disease progression and response to AATD treatments.

Reference sources

1. McElvaney NG, Burdon J, Holmes M, et al. Long-term efficacy and safety of alpha1 proteinase inhibitor treatment for emphysema caused by severe alpha1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE). Lancet Respir Med. 2017 Jan;5 (1):51–60. doi: 10.1016/S2213-2600(16)30430-1
2. De Soyza J, Pye A, Turner AM. Are clinical trials into emerging drugs for the treatment of alpha-1 antitrypsin deficiency providing promising results? Expert Opin Emerg Drugs. 2023 Dec;28(4):227-231. doi: 10.1080/14728214.2023.2296088.
3. Campos MA, Kueppers F, Stocks JM, et al. Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha-1 proteinase inhibitor in alpha-1 antitrypsin deficiency: a multicenter, randomized, double-blind, crossover study (SPARK). COPD: J Chronic Obstructive Pulmonary Dis. 2013 Dec;10 (6):687–695.
4. LLC GT. A study to evaluate safety, tolerability and pharmacokinetics of two different doses of Alpha1-proteinase inhibitor subcutaneous (human) 15% in participants with Alpha1-antitrypsin deficiency. 2021. Available from: https://classic.clinicaltrials.gov/ show/NCT04722887
5. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency. Eur Respir J. 2017 Nov;50(5):1700610.
6. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668–682. doi: 10.15326/jcopdf.3.3.2015.0182

Source: Centro Andaluz Alfa 1

La entrada Future AATD therapies se publicó primero en Centro Andaluz Alfa-1.

History of nursing in Spain

In 1977, the specialties law separating Pulmonology from Cardiology was approved in Spain.

Since then, both specialties have been established separately, making great advances in medical research.
Nursing, in Spain, has been practiced as such since 1857 when the practitioner’s career could be studied as a regulated free education.

In 1924, the National Health School was founded, and its purpose was to train doctors and create a health nursing body that would act as auxiliary personnel, Health Technical Assistants, known as ATS.

Already in 1952 the laws were reformed and the titles of Practitioners, Midwives and Nurses were unified.

In this way, it gave rise to the recent title of Diploma in Nursing, with the recognition of a DUE university degree and the profession of Nursing, with its own body of knowledge.

Respiratory Nursing

• In respiratory diseases, the nursing role is key in the appropriate approach to the patient.
• Respiratory nursing focuses its care on promoting the highest degree of respiratory health in the population.
• Respiratory nurses are advisors in managing the care of patients with respiratory problems.

That is, they evaluate and implement new ways of caring for respiratory patients and are experts in their field with extensive knowledge of respiratory complications both in the hospital environment and in the community.

For some authors, respiratory assessment is an essential element in the basic training of nursing students.

However, the reality is that general nurses express doubts regarding basic aspects of this, such as measuring respiratory rate or the technique for performing blood gases.

Currently, there is no recognized specialty as respiratory nursing in our country, despite it being a need expressed on numerous occasions by the group of nurses who provide care in the pulmonology environment.

Respiratory system

The respiratory system is a complex anatomical system that includes the lungs, airways, various parts of the central nervous system related to the control of ventilation, respiratory muscles and the rib cage.

The assessment is a systematic process that includes clinical history and physical examination that consists of:

• Recognize changes in lung status.
• Determine interference in daily activities.

Therefore, nursing staff must assess whether there are significant changes in these aspects; In addition, if there are factors that affect the respiratory control mechanisms

Among the characteristics to be evaluated we can mention the frequency, volume, rhythm, ease and efforts, respiratory sounds and chest movements in addition to the presence of cough and expectoration in the patient.

Importance of Respiratory Nursing

Respiratory nursing plays a fundamental role in many areas of patient care, such as the following:

1. The hospitalization floor
2. Functional testing laboratories
3. Specialized consultations
4. Patient care in the face of smoking
5. lung transplant
6. Bronchoscopy
7. sleep unit
8. Ventilation
9. Home care.

In general, there are a variety of roles and responsibilities, depending on the environment and patient needs.

For example, they assess respiratory status and needs with tools such as pulse oximetry and chest x-rays.

They also develop and implement care plans in collaboration with other health professionals.

On the other hand, they administer medications and treatments such as oxygen therapy and bronchodilators.

Another very important aspect is to educate patients about their condition and how to prevent complications.

They also monitor progress and adjust care plans accordingly.

As well as providing emotional support to patients and their families.

Chronic respiratory diseases

On the other hand, it faces the care of chronic patients, which requires, in many cases, complex treatments such as:

1. Non-invasive mechanical ventilation (NIMV)
2. Treatment with continuous airway pressure (CPAP)
3. Home respiratory therapies.

It is known that this type of treatment affects the patient and their families, as it involves a change in lifestyle and requires monitoring by specialized personnel.

Specific treatments

Likewise, currently, the route chosen for the treatment of obstructive respiratory diseases is inhaled.

Given the growing appearance of new devices and the importance of correct technique for their administration, constant updating by nursing staff is essential, where it plays a fundamental role in patient education.

Conclusions on respiratory nursing

For all these reasons, the existence of groups, as well as training and discussion forums, are essential.

The objective is to promote the growth of respiratory nursing and give value to the role of the specialized nurse.

Nurses are essential in the care and monitoring of patients with respiratory pathologies, being a reference for family members and caregivers.

Source: Centro Andaluz Alfa 1, Consejo General de enfermería, dialnet, sogapar

La entrada Respiratory Nursing se publicó primero en Centro Andaluz Alfa-1.

On the last day of February we celebrate the day of rare diseases and for next April we plan the commemoration of European Alfa 1 Day and the 25th anniversary of Alfa 1 Spain.

Furthermore, this coincides with the IV national meeting of patients, families and professionals.

This year it will be organized in the beautiful city of Zamora, and will take place on the weekend of April 19 to 21, just before April 25, the official date on which European Alfa 1 Day is celebrated.

We invite you to live a unique experience

This experience promises to be very complete, starting with the information days, in which medical professionals, specialists in alpha 1 deficiency.

Presentations will be organized to inform attendees about news and recommendations for patients and families.

In addition, there will be time to attend walks along the Camino de Santiago in the surroundings of the city, where you can chat and share experiences.

It is also planned to organize mindfulness and nutrition sessions that promise to improve the lives of those who attend these sessions.

Assistance from specialists in Alpha 1 Deficiency

In Spain we are fortunate to have great professionals, international references.

Therefore, during these days we will receive you to learn about the medical advances that are taking place.

The following specialist speakers in pulmonology will participate in this meeting:

• José Mª Hernández, coordinator of the Spanish Alpha-1 Antitrypsin Deficiency Network.
• Francisco Casas, pulmonologist at the San Cecilio University Hospital in Granada
• María Torres, coordinating pulmonologist of the Galician Alfa-1 Center, of the Álvaro Cunqueiro Hospital.
• Francisco Dasi, researcher at INCLIVA Valencia.
• Beatriz Martínez-Delgado researchers at the Carlos III Health Institute.

Our history

Alfa 1 Spain was founded 25 years ago, the initiative of which was a few patients, back in 1999.

Currently there are more than 600 affected, and we also have strong alliances with Portugal and the most recent coalition with the Alpha-1 Europe Alliance, which brings together groups from across the continent.

Alfa 1 Spain 25th anniversary program

Organized activities

If you are interested, you can now register to participate in the IV national patient meeting.

It is a weekend full of activities, which includes accommodation and food, the management of which is entrusted to the España Alfa 1 association.

PROGRAM ADVANCE

25th anniversary of Alfa 1 Spain

THURSDAY, APRIL 18, 2024

Arrival of participants

FRIDAY, APRIL 19, 2024

09:30 Group walk: Camino de Santiago-Vía de Levante.

16:30 Mindfulness: a tool that improves the quality of life (session I), with Cándida Bueno (psychologist).

17:30 Nutrition workshop: with Claudia Zurdo. Dietitian and nutritionist.

SATURDAY, APRIL 20, 2024

MORNING

09:30 Inauguration of the day and commemorative event for the 25th Anniversary of Alfa 1 Spain.

Participants:

• Dr. José Mª Hernández. Pulmonologist. Nuestra Señora de Candelaria University Hospital (Santa Cruz de Tenerife). Coordinator of the REDAAT National Committee.
• Fernanda Aspilche, president of Alpha-1 Europe Alliance.
• Fernando Pinto, president of Alfa-1 Portugal.
• Mariano Pastor, president of Alfa-1 Spain.

10:00 Alfa-1 Update Table: Presented and moderated by Mariano Pastor, president of Alfa 1 Spain

10:00 Liver disease and AATD: Diagnosis and prevention

Dr. Henedina Antunes. Head of Pediatric Service, São Marcos Hospital, Braga, Portugal.

• Responsible for the Gastreenterology, Hepatology and Pediatric Nutrition Consultation.
• Researcher at the Institute of Life and Health Sciences (ICVS) of the School of Health Sciences of the University of Minho.

10:40 The DAAT Update: Prevention of respiratory infections

Dr. Francisco Casas. Pulmonologist. San Cecilio University Hospital (Granada).

• Director of the Andalusian Alfa-1 Center and member of the REDAAT National Committee.

12:00 Coffee Break

12:30 The new Galician itinerary for patients with AAT as a care and follow-up model

Dr. María Torres. Pulmonologist. Álvaro Cunqueiro Hospital (Vigo).

• Member of the Galician Alfa-1 Center and the REDAAT National Committee.

AFTERNOON

13:10 Asthma and AATD: Myth or reality

Dr. José Mª Hernández. Pulmonologist. Nuestra Señora de Candelaria University Hospital (Santa Cruz de Tenerife).

• Coordinator of the REDAAT National Committee.

13:50 How they help research into DAAT

Dr. Beatriz Martínez, Carlos III Health Institute (Madrid).

• Slim. Researcher. Department of Molecular Genetics of the Rare Diseases Research Institute.
• Member of the National Committee of REDAAT.

14:20 Closing of the day.

Participants:

• Abilio Mota. 2nd Vice President of Alfa-1 Spain.
• Fuensanta Soria. Delegate in Catalonia of Alfa-1 Spain
• Diego Alba. Member of Alfa-1 Spain

17:00 Walk: Camino de Santiago-Vía de la Plata.

NIGHT

20:00 Mindfulness: a tool that improves the quality of life (session II), with Cándida Bueno (psychologist).

SUNDAY, APRIL 21, 2024

09:30 Meeting of associated patients of Alfa-1 Spain: Promotion of associations.

11:30 Walk: Route of the bridges (Zamora)

Tarde: Regreso participantes.

Walking routes

The Association organizes group walks, touching sections of the Camino de Santiago de la Vía de la Plata and the Camino de Levante in the area of Zamora, and through the center of the city.

In all cases, there will be support from support vehicles and oxygen supply, to ensure that all participants can participate in the activity regardless of their physical condition.

Participants will be divided into two groups, depending on the physical condition of each person.

The action aims to promote physical exercise and direct contact with nature as basic tools to improve quality and life expectancy.

We also want to facilitate and consolidate relationships between patients and create social ties.

On the other hand, as in previous projects, the Association coordinates the IV National Patients’ Meeting, taking responsibility for hotel and subsistence reservations.

Source: Centro Andaluz Alfa 1, FEDER, Alfa 1 España

La entrada 25th Anniversary of Alfa 1 Spain se publicó primero en Centro Andaluz Alfa-1.

Reunion of patients with Alpha 1 Deficiency

The Alpha 1 Association of Spain organizes an event that marks the hearts of patients with Alpha 1 Deficiency.
This year there have been 60 participants, including patients and relatives, who have been encouraged to travel 130 kilometers in 6 days.

The starting point was León and they ended in Villafranca del Bierzo, with stops at the Church of Santiago and the Puerta del Perdón, and at the Monastery of Santa María de Carracedo.

Despite the high temperatures and the additional medical equipment, such as the oxygen concentrator, the participants managed to finish the course.

Without a doubt, it has been a wonderful experience in which laughter, anecdotes, good times and new friendships have been shared, in short, a memory for a lifetime.

The pilgrimage of Alpha 1 patients give voice to their condition

To start, the main objective is to give a voice to patients with this rare disease, of genetic origin and which causes serious liver and lung pathologies.

In addition, the activity has had the support of Grifols, Linde, CSL Behring, Chiesi and GSK.

In 2018 it was the last meeting, and it is that with the pandemic it has not been able to organize itself again, in this way the reunion was highly anticipated and desired.

Besides, Mariano Pastor, head of the Alfa 1 Association, was excited, and we felt it on his words,

His words showed a lot of love and affection to the members of the association, saying that the Alfas en Camino Edition makes it possible to create firm ties between those who suffer the consequences of the Deficit.

Alpha 1 Patient Association

The Alpha 1 Patient Association is already a big family

There is a great union and they support each other

In numbers, in Spain there may be approximately 14,000 people, of which an estimated 6% have been diagnosed.

For this reason the Alphas have taken advantage of the pilgrimage to inform the people who were on their way.

Spreading knowledge is in the alpha’s genes

In this case, they tried to explain the importance of accelerating the diagnosis of this disease to avoid greater ills, including serious and irreversible conditions in the lungs and liver.

Spread information

Equals prevent disease

Alpha 1 deficiency is a rare genetic condition that originates in the liver and affects the respiratory system.

Therefore, the consequences in children can lead to liver diseases, however, in adults it is more common for respiratory diseases to originate.

In the northern areas of Spain there are more diagnoses, perhaps this is preceded by the Viking settlements of the Middle Ages, where it is believed that this disease really originated.

This can be explained from the so-called Z allele, which produces its most severe variant, and whose DNA is typical of Scandinavian populations.

There are risks associated with Alpha 1 Deficiency

Mainly external factors such as tobacco use, air pollution, exposure to respiratory toxins and particles in the work environment, as well as inadequate nutrition, affect more.

For this reason, early diagnosis is key to preventing more serious effects, with the aim of monitoring those affected and establishing periodic controls that allow for timely detection of related diseases.

The diagnosis of Alpha-1 Antitrypsin Deficiency is made by a blood test

If Alpha protein levels are lower than normal, a genetic study is continued to determine possible combinations of mutated genes that cause deficiency.

Since Alpha-1 is inherited from parent to child, once it is detected in one family member, genetic testing on the rest of the family is recommended.

Alpha 1 Spain Association

Afterwards, the Patient AssociationAlfa 1 Spain is in permanent contact with doctors from all over Spain to better monitor those affected and establish periodic controls that allow associated diseases to be detected in time.

Alfa-1 Spain is a non-member organization:

FEDER (Federation of Associations for Rare Diseases), FENAER (federation of respiratory disease associations) and FNETH (federation of associations of affected and liver transplant recipients).

Overall, Its mission is to collaborate in research and raise awareness among the population about this incurable genetic condition.

And its ultimate goal is to defend the rights of those affected and access to quality health care, promote awareness of AATD and its early diagnosis.

Fuentes:

Leonoticias, Ileonnoticias, Elbierzodiginal, Alfa 1 España

La entrada The pilgrimage of Alpha 1 patients se publicó primero en Centro Andaluz Alfa-1.

Did you know that every 30 seconds a blood donation is needed here in Spain?

Something important to know is that four out of ten people will need blood or some of its components, such as plasma to manufacture the AATD treatment, throughout their lives.

Unfortunately, currently only 4% of the population donates blood, and at least 30% of the donor population would be necessary.

In addition, to this problem, we must add the “non-generational change”, making it even more difficult to cover the number of new donors with respect to those who stop donating blood when they reach 65 years of age.

Luckily for us, this problem has an easy solution.

We tell you what can be done and how you can help.

The benefits of donating blood

The reasons abound

3 lives can be saved for each donation, because blood contains four components: plasma, platelets, white blood cells and red blood cells.

All of them can be acquired in a single donation, impressive isn´t?

Gain health

You make someone happy at no cost, you offer someone the opportunity to save their life, or that they can continue fighting to achieve it and in the same way, enjoy more time with their family and friends.

You give life and hope

Blood is needed in many circumstances:

• Surgeries
• Organ transplants
• Cancer treatments
• Blood diseases
• Burn units
• Premature births

5 reasons to donate

You earn a medical checkup every time you donate blood

• They take blood pressure and measure the pulse.
• They perform a test to check the level of white blood cells and red blood cells.
• Find out your blood group.
• In case of infection or disease, they make a quick and effective diagnosis than a general medical check-up.

Solidarity detox plan

Every time you donate blood, your body begins to make fresh, new blood. Allowing to completely get rid of the toxins and waste that the body produces.

Extends life and prevents diseases

Information based on the well-known North American study The Iron, by P. Mangan Dumping.

This publication includes 144 clinical studies carried out over 20 years on people who have been blood donors and reflects the following information:

The risk of cardiovascular diseases was reduced by 40%, the risk of cancer by 41.5% and diseases such as Parkinson’s dementia and Alzheimer’s by more than 42%.

In summary, maintaining average ferritin levels can reduce the risk of developing diseases such as those mentioned.

In the case of men, unlike women, this data is detrimental.

Since men, do not have menstruation, these levels do not drop naturally in the blood.

It is reflected in more than 20 scientific studies, that men live between 6 and 8 years less than women.

You will lose weight

Donating is the only activity that allows you to eliminate 750 calories in just 10 minutes!

Improve your health

It stimulates the production of new blood cells in the body and helps purify triglycerides.

Improves blood flow, with a lowering the risk of suffering a stroke.

Every time you donate, the risk of suffering from some type of thrombus is reduced, because blood flow is improved, making it more liquid. In fact, one of the most common treatments for patients who have suffered a stroke is blood donation.

Donate blood, it’s all benefits!

If you’ve ever thought about donating blood, now is the time!

Don’t be afraid, it doesn’t hurt, it’s only a few minutes, today for you and tomorrow…
Find more information at your nearest blood transfusion center, as well as hospitals and blood transfusion buses.

Thanks for donating!

La entrada The benefits of donating blood se publicó primero en Centro Andaluz Alfa-1.