Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
Primary Purpose
Muscular Dystrophy, Facioscapulohumeral
Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Blood test
Sponsored by
About this trial
This is an interventional basic science trial for Muscular Dystrophy, Facioscapulohumeral
Eligibility Criteria
Inclusion Criteria:
- age ≥ 18 years and <75 years
- FSHD patients 1 or 2 with or without genetic confirmation
Exclusion Criteria:
- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.
Sites / Locations
- Hôpital Archet 1Recruiting
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
FSHD patient
Arm Description
Outcomes
Primary Outcome Measures
Muscle damage measure
Level of muscle damage
Secondary Outcome Measures
Full Information
NCT ID
NCT01970735
First Posted
October 23, 2013
Last Updated
December 10, 2013
Sponsor
Centre Hospitalier Universitaire de Nice
1. Study Identification
Unique Protocol Identification Number
NCT01970735
Brief Title
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
Official Title
Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
Study Type
Interventional
2. Study Status
Record Verification Date
October 2013
Overall Recruitment Status
Unknown status
Study Start Date
October 2013 (undefined)
Primary Completion Date
October 2016 (Anticipated)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Centre Hospitalier Universitaire de Nice
4. Oversight
Data Monitoring Committee
No
5. Study Description
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
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophy, Facioscapulohumeral
7. Study Design
Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
100 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
FSHD patient
Arm Type
Experimental
Intervention Type
Biological
Intervention Name(s)
Blood test
Primary Outcome Measure Information:
Title
Muscle damage measure
Time Frame
One time at the inclusion
Title
Level of muscle damage
Time Frame
One time at the inclusion
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
75 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
age ≥ 18 years and <75 years
FSHD patients 1 or 2 with or without genetic confirmation
Exclusion Criteria:
- Patient with all conditions considered by the investigator interfering with the proper conduct of the study.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Sabrina SACCONI, Dr
Phone
+33 492039002
Email
sacconi.s@chu-nice.fr
Facility Information:
Facility Name
Hôpital Archet 1
City
Nice
ZIP/Postal Code
06202
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Sabrina SACCONI, Dr
Phone
+33 492039002
Email
sacconi.s@chu-nice.fr
First Name & Middle Initial & Last Name & Degree
Sabrina SACCONI, Dr
12. IPD Sharing Statement
Citations:
PubMed Identifier
30979860
Citation
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.
Results Reference
derived
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Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
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