Research on Rare Diseases in Germany - The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases.

CONGENITAL IMMUNODEFICIENCIES MULTI-ORGAN AUTOIMMUNE DISEASES QUALITY OF LIFE RARE DISEASES

Journal

Journal of health monitoring
ISSN: 2511-2708
Titre abrégé: J Health Monit
Pays: Germany
ID NLM: 101757730

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 15 06 2023
accepted: 28 08 2023
medline: 18 1 2024
pubmed: 18 1 2024
entrez: 18 1 2024
Statut: epublish

Résumé

Patient registries are an important tool for networking medical caregivers and research, especially in the field of rare diseases. Individuals afflicted by multi-organ autoimmune diseases typically suffer from inflammation of multiple organs. GAIN (German genetic multi-organ Auto-Immunity Network) is the German network for research and therapy optimisation for individuals with congenital multi-organ autoimmune diseases. As a sub-project of the network, the registry systematically collects data from this patient group and makes it available for research purposes. A data set was developed and made available for the GAIN Registry that can map the complex clinical status of persons with multi-organ autoimmune diseases. Data from 486 individuals have been documented to date. The GAIN register allows for a very comprehensive documentation that clearly goes beyond previous approaches, e.g. by linking it to biosamples collected in the consortium. The planned inclusion of patients in the documentation, e.g. of data on quality of life, opens up a new field.

Sections du résumé

Background UNASSIGNED
Patient registries are an important tool for networking medical caregivers and research, especially in the field of rare diseases. Individuals afflicted by multi-organ autoimmune diseases typically suffer from inflammation of multiple organs.
Project UNASSIGNED
GAIN (German genetic multi-organ Auto-Immunity Network) is the German network for research and therapy optimisation for individuals with congenital multi-organ autoimmune diseases. As a sub-project of the network, the registry systematically collects data from this patient group and makes it available for research purposes.
Results UNASSIGNED
A data set was developed and made available for the GAIN Registry that can map the complex clinical status of persons with multi-organ autoimmune diseases. Data from 486 individuals have been documented to date.
Conclusions UNASSIGNED
The GAIN register allows for a very comprehensive documentation that clearly goes beyond previous approaches, e.g. by linking it to biosamples collected in the consortium. The planned inclusion of patients in the documentation, e.g. of data on quality of life, opens up a new field.

Identifiants

DOI: 10.25646/11732 PMID: 38235015 PMC: PMC10790410
pubmed: 38235015
doi: 10.25646/11732
pmc: PMC10790410
doi:

Types de publication

Journal Article

Langues

eng

Pagination

24-30

Informations de copyright

© Robert Koch Institute. All rights reserved unless explicitly granted.

Déclaration de conflit d'intérêts

Conflicts of interest The authors declare that there is no conflict of interest.

Auteurs

Cynthia Stapornwongkul (C)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
FREEZE-Biobank, Center for Biobanking, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Alexandra Nieters (A)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
FREEZE-Biobank, Center for Biobanking, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Paulina Staus (P)

Institute of Medical Biometry and Statistics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Stephan Rusch (S)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
FREEZE-Biobank, Center for Biobanking, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Anita Delor (A)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
FREEZE-Biobank, Center for Biobanking, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Ulrich Baumann (U)

Department of Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Germany.

Julius Wehrle (J)

Institute of Digitalization in Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Department of Medicine I, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Melanie Boerries (M)

Institute of Medical Bioinformatics and Systems Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Markus G Seidel (MG)

Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Austria.

Bodo Grimbacher (B)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Gerhard Kindle (G)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
FREEZE-Biobank, Center for Biobanking, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

Classifications MeSH