ReSolve v.1.1
Research type
Research Study
Full title
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
IRAS ID
294066
Contact name
Enrico Bugiardini
Contact email
Sponsor organisation
University of Kansas Medical Center
Clinicaltrials.gov Identifier
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Facioscapulohumeral muscular dystrophy (FSHD), is the second most common type of adult muscular dystrophy with an estimated prevalence range of 2–12 per 100,000. Progressive weakness in FSHD leads to loss of the ability to walk or maintain a job in about 20% of affected individuals. There are no approved therapies for FSHD which represents a large unmet medical need. The establishment of a unifying model for the cause of FSHD in 2010 means it is possible to develop targeted treatments for FSHD. As drugs move from preclinical planning into human trials, it is essential that we validate clinical trial tools and methodology to hasten the drug development process.
The overall aim of this proposal is to hasten drug development for facioscapulohumeral muscular dystrophy by validating two new clinical outcome assessments (COAs): an evaluator-administered functional composite COA (FSHD-COM) composed of disease-relevant standard functional tasks, and electrical impedance myography (EIM), a non-invasive physiological biomarker for measuring changes in muscle composition. Specific aims of the study are 1) to determine the Multi-Site Reliability and Validity of New COAs; 2) Compare the Responsiveness of New COAs to Other FSHD Outcomes and Determine the Minimal Clinically Important Change; 3) Establish FSHD Cohort Characteristics Useful for Determining Clinical Trial Eligibility Criteria.
The project is a multicentre 24-month longitudinal study in 300 genetically confirmed and clinically affected participants. Visits occur at baseline and months 12,18 and 24. At each visit we will collect FSHD-COM and EIM. Additional outcomes collected to help validate the new COAs include: 1) Functional motor testing; 2) Reachable workspace; 3) orofacial strength; 4) lean muscle mass using dual-energy X-ray absorptiometry; 5) strength as measured by quantitative myometry and manual muscle testing; and 6) patient-reported outcomes. Plasma, DNA, RNA, serum and muscle sample will be collected for future biomarker studies.REC name
London - Stanmore Research Ethics Committee
REC reference
21/LO/0442
Date of REC Opinion
22 Jul 2021
REC opinion
Further Information Favourable Opinion