COS PrePARED
Research type
Research Study
Full title
COS-PREPARED Clinical Outcome Study in PRe- and Early-symptomatic PAtients with REcessive Dysferlinopathy
IRAS ID
342633
Contact name
Volker Straub
Contact email
Sponsor organisation
NUTH
Duration of Study in the UK
6 years, 11 months, 31 days
Research summary
Limb Girdle Muscular Dystrophy R2 is a rare muscular dystrophy estimated to affect somewhere between 5/8 per million depending on geographical location. It is caused by mutations in DYSF gene. Symptoms usually start in late teenage years, but there is also a late onset form. The Study will enrol participants who have been diagnosed with LGMDR2 Dysferlin related through either a coincidental blood test or following the diagnosis of affected family member but who are not yet demonstrating symptoms affecting their mobility. The aim is to follow the participants for 5 years to understand the very early natural history of disease onset. The study will used MRI protocols and standard clinical outcome assessments including gait analysis in order to pick up early changes in muscle pathology and function. Blood samples will also be taken. There will be the option for participants to donate blood, urine and muscle samples for biobanking
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
25/NE/0051
Date of REC Opinion
9 Jun 2025
REC opinion
Further Information Favourable Opinion