Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
1 other identifier
interventional
103
1 country
1
Brief Summary
The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2). Despite advances in research on the subject, answers are still needed on these diseases. We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD. This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Oct 2013
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 23, 2013
CompletedFirst Posted
Study publicly available on registry
October 28, 2013
CompletedStudy Start
First participant enrolled
October 30, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 16, 2014
CompletedStudy Completion
Last participant's last visit for all outcomes
December 16, 2014
CompletedNovember 14, 2023
November 1, 2023
1.1 years
October 23, 2013
November 10, 2023
Conditions
Outcome Measures
Primary Outcomes (2)
Muscle damage measure
One time at the inclusion
Level of muscle damage
One time at the inclusion
Study Arms (1)
FSHD patient
EXPERIMENTALInterventions
Eligibility Criteria
You may qualify if:
- age ≥ 18 years and \<75 years
- FSHD patients 1 or 2 with or without genetic confirmation
You may not qualify if:
- \- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Hôpital Archet 1
Nice, 06202, France
Related Publications (1)
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. FSHD1 and FSHD2 form a disease continuum. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.
PMID: 30979860DERIVED
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- BASIC SCIENCE
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 23, 2013
First Posted
October 28, 2013
Study Start
October 30, 2013
Primary Completion
December 16, 2014
Study Completion
December 16, 2014
Last Updated
November 14, 2023
Record last verified: 2023-11