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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
Centre Hospitalier Universitaire de Nice
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Muscular Dystrophy, Facioscapulohumeral

Eligibility Criteria

18 Years - 75 Years (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

First Posted
October 23, 2013
Last Updated
December 10, 2013
Sponsor
Centre Hospitalier Universitaire de Nice
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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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