Patient registries

What is a patient registry?

A patient registry attempts to collect information about patients suffering from a particular disease.

Registries are databases that contain quantitative and qualitative data about patients, obtained from questionnaires, interviews and medical reviews, from which variables can be measured to make cross-sectional comparisons (at a specific phase or time) or longitudinal comparisons. (months or years of follow-up).

What can be obtained from a patient record?

Every initiative pursues a result

The fundamental objective of the registries is to advance knowledge of a disease and improve the quality of life of patients with alpha-1 antitrypsin deficiency (AATD).

Patient registries are a key element for the research and development of therapies aimed at rare diseases.

Best of all, it generates links between patients and the research community, providing the opportunity for people to receive information directly relevant to their disease, in addition to sharing experiences with other patients who suffer from the same disease.

Why is patient registration important in Rare Diseases?

The Rare Disease Patient Registries offer health system professionals, researchers, and the group of patients and family members a greater level of knowledge about the number and geographical distribution of people affected by rare diseases in Spain.

• They promote research, increase the visibility of these diseases, and favor decision-making for adequate health planning and correct distribution of resources.
• They facilitate the carrying out of studies and clinical trials.
• They support specific lines of research.

EARCO (European Alpha-1 Research Collaboration)

The European Respiratory Society (ERS) is the most important scientific and clinical organization of respiratory medicine in Europe and with great global relevance.

Its members are scientists, doctors, health professionals and other experts from around the world.

EARCO is a pan-European network committed to promoting clinical research and education on AATD. The main project is the International AATD Registry, a collaboration open to all researchers worldwide who care for patients with AATD.

The Andalusian Alfa 1 Center in Granada participates in EARCO.

This study, started in 2020, is based on the following:

• Number of countries involved in this study: 19
• Number of research centers: 66
• Number of centers registering patients: 47

And set the following objectives:

1. Recruit 3,000 patients in the first 3 years.
2. Collect information from centers throughout Europe.
3. Integrate data with pre-existing national registries.
4. Facilitate the development of longitudinal studies.
5. Facilitate collaboration with other registries, such as the liver registry.
6. Attract medical researchers and promising young doctors to the field of DAAT.

Rare disease strategy

For all these reasons, it is necessary that all doctors who care for these patients request AAT determination for all their patients. This test is available in all health centers, but it is requested in less than 40% of COPD patients treated in pulmonology. We encourage all professionals to perform the tests within their reach to diagnose this not so rare, but underdiagnosed disease, AATD.

Strategic Lines in Rare Disease Registries

Common strategic lines have been designed to carry out studies and research that include the different areas of interest. Each strategic line includes general and specific objectives, technical recommendations and monitoring and evaluation indicators. These are the strategic lines that are developed:

• Information about EERR and available resources
• Prevention and early detection: neonatal screening
• Health care
• Therapies
• Geriatric care
• Investigation
• Training

Centers, Services and Reference Units (CSUR)

Both in Spain and internationally there are centers dedicated to the training of professionals and patient care.

Among the main objectives of these centers are the following:

1. Know the characteristics and frequency of DAAT in Spain.
2. Understand the natural history of this pathology.
3. At an international level, they establish regulations adapted to our country on the diagnosis, treatment and monitoring of patients with AATD.
4. Provide information to doctors treating these patients.
5. Increase knowledge and interest in DAAT and try to reduce underdiagnosis and delay in diagnosis.
6. Provide technical support for the determination of the A1AT phenotype and, if necessary, the AAT genotype.
7. Offer expert support in the development of research projects in AAT and act as contact between different professionals, societies and associations linked to the DAAT.

Reference centers

The National Reference Center for rare diseases and their families, in Burgos

This center offers information about diseases and support to patients and families; as well as institutions and professionals. In addition, the National Reference Center for rare diseases and their families, in Burgos, provides guidance on the socio-health resources available for this type of pathology.

Orphanet

This organization creates databases that collect information on rare diseases and orphan drugs.

Orphanet also offers services for patients and families, healthcare professionals, researchers, industry and regulators.

Conclusions

To finish, we have gathered the most important milestones of this news:

• A patient registry attempts to collect information about patients suffering from a particular disease.
• Patient registries are carried out especially in rare diseases (EERR), they meet all the requirements of the Data Protection Law and participation is voluntary.
• The EERR Patient Registries are a key piece for the research and development of therapies aimed at rare diseases, they favor decision-making for adequate planning of health policies and a correct distribution of resources for the EERR, and they help to improve the quality of life of patients with AATD and their families.

Source: Centro Andaluz Alfa 1