Rare Condition Research Study (ReCoRD)
Research type
Research Study
Full title
Rare Condition Research Study (ReCoRD)
IRAS ID
345317
Contact name
Siddharth Banka
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Rare conditions (RCs) are conditions affecting fewer than 1 in 2,000 people. While each RC is uncommon, together they impact over 300 million people worldwide. Research into these conditions is challenging due to their diversity and the small number of patients for each condition.
The Rare Conditions Research stuDy (ReCoRD) aims to tackle these challenges and meet the needs of people with RCs. ReCoRD will create a unified research platform to improve diagnosis, discover new RCs, and enhance understanding of these conditions. The study will include individuals with suspected or diagnosed RCs and their family members, identified through doctor referrals and outreach efforts. By studying diagnosed RCs, researchers hope to better understand how these conditions progress over time.
Key aspects of the study include creating a database to store genetic, demographic, and clinical data, performing advanced analyses for participants with unsolved RCs, and studying disease mechanisms and sharing data. Researchers will use various techniques, including computer analysis of biological data and laboratory studies. The study will also collect detailed clinical information for specific RCs to better describe their features. Throughout the process, data protection, ethical considerations, and patient involvement are priorities, with input from the "We R Rare" group.
Expected outcomes include improved diagnosis rates, discovery of new RCs, better understanding of how these diseases work, and clearer descriptions of RC features to guide treatment. ReCoRD aims to make large-scale data analysis and collaborative research easier, ultimately advancing our understanding and treatment of rare conditions and improving the lives of millions affected by these disorders.REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
25/NW/0073
Date of REC Opinion
20 Mar 2025
REC opinion
Unfavourable Opinion