Prospective Natural History Patients Limb Girdle Muscular Dystrophy 2I
Research type
Research Study
Full title
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients with Limb-Girdle Muscular Dystrophy 2I
IRAS ID
258326
Contact name
Volker Straub
Contact email
Sponsor organisation
GENETHON
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
For rare conditions such as LGMD2I, natural history studies are increasingly becoming a critical prerequisite for the development of interventional therapies, as they provide the relevant knowledge of the course of a disease. They are also used to develop and apply standardised outcome measures for assessing changes over time, which form the basis for monitoring therapeutic efficacy.
LGMD2I is a condition that causes weakness and wasting of the muscles in the arm and legs. The proximal muscles (those closest to the body, such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I the symptoms are often developed in late childhood and may include difficulty in running and walking. LGMD2I is caused by changes (mutations) in the FKPR gene and is inherited in an autosomal recessive manner. To date, there are no specific treatment for LGMD2I.
This study will be conducted in Germany, Denmark, France and the United Kingdom. Approximately 60 patients ≥ 16 years of age will be enrolled in the study. The duration for participation for each patient will be up to 24 months.
Patients will be assessed at the investigational site at screening visit, baseline visit, and at 6, 12 and 24 months. A two-day visit will be scheduled per patient, either 2 consecutive days or 2 separate days, depending on the patient’s choice.
REC name
East of Scotland Research Ethics Service REC 1
REC reference
19/ES/0022
Date of REC Opinion
11 Apr 2019
REC opinion
Further Information Favourable Opinion