Clinical Trials Logo

Clinical Trial Summary

Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.


Clinical Trial Description

The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) recruits any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD. The registry is sponsored by Muscular Dystrophy UK. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry etc. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are available to view on the registry website before joining the registry). This is an ongoing database and all participants are invited to update their information on an annual basis. The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R&D approval has been recieved. ;


Study Design


Related Conditions & MeSH terms

  • Facioscapulohumeral Muscular Dystrophy
  • Muscular Dystrophies
  • Muscular Dystrophy, Facioscapulohumeral

NCT number NCT04001582
Study type Observational [Patient Registry]
Source Newcastle University
Contact Registry Project Manager and Curator
Phone 0191 2418640
Email helen.walker2@newcastle.ac.uk
Status Recruiting
Phase
Start date May 2013
Completion date January 2040

See also
  Status Clinical Trial Phase
Recruiting NCT00082108 - Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Completed NCT02579239 - Evaluate Safety and Biological Activity of ATYR1940 in Participants With Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 1/Phase 2
Terminated NCT02927080 - Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 2
Completed NCT02625662 - Facioscapulohumeral Dystrophy in Children
Recruiting NCT06425445 - Quantitative Assessment of Orofacial Muscle Function in FSHD N/A
Terminated NCT03943290 - Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX) Phase 2
Completed NCT01596803 - Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) N/A
Active, not recruiting NCT03458832 - Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
Completed NCT02766985 - Rasch-analysis of Clinical Severity in FSHD
Active, not recruiting NCT01671865 - Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Completed NCT02413190 - Bone Health in Facioscapulohumeral Muscular Dystrophy
Completed NCT01931644 - At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
Completed NCT01437345 - A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD N/A
Completed NCT02836418 - Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD) Phase 1/Phase 2
Not yet recruiting NCT06086548 - Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics
Completed NCT00821548 - Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients N/A
Completed NCT05178706 - Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)
Completed NCT00104078 - Study Evaluating MYO-029 in Adult Muscular Dystrophy Phase 1/Phase 2
Recruiting NCT05019625 - Biomarker Development for Muscular Dystrophies
Completed NCT03123913 - Study of Testosterone and rHGH in FSHD Phase 1