NF1 Cutaneous Neurofibroma Consortium Project (NF1-CNC Project)
Research type
Research Study
Full title
The Neurofibromatosis Type 1 (NF1) Cutaneous Neurofibroma Consortium Project- Identifying genetic modifiers of disease burden to inform treatment pathway - UK addendum.
IRAS ID
311500
Contact name
Emma Burkitt-Wright
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Duration of Study in the UK
2 years, 1 months, 0 days
Research summary
Neurofibromatosis type 1 (NF1) is the most common neurogenetic condition. Adult patients report cosmetic disfigurement due to distressing fleshy skin tumours, known as neurofibromas, as the greatest burden of living with NF1. There is currently no way to predict tumour severity which can range from <100 to thousands. This study will conduct a large genome-wide association study within a cohort of 2000 adults with NF1 to identify genetic modifiers to understand disease variability and characterise potential treatment pathways.
The study is part of an international consortium, the methodology mentioned in the IRAS form is what will be happening in the UK.
REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
24/NW/0176
Date of REC Opinion
5 Jul 2024
REC opinion
Further Information Favourable Opinion