Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
NCT ID: NCT01970735
Last Updated: 2023-11-14
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
NA
103 participants
INTERVENTIONAL
2013-10-30
2014-12-16
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia
NCT02961868
NIPD on cffDNA for Triplet Repeat Diseases
NCT04698551
CGH Array in Bilateral Clubfoot
NCT04737083
Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.
NCT00154960
Hereditary Paraganglioma: Evaluation of Screening Methods to Detect Tumors in SDH Positive Carriers
NCT00188019
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
NA
SINGLE_GROUP
BASIC_SCIENCE
NONE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
FSHD patient
Blood test
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Blood test
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* FSHD patients 1 or 2 with or without genetic confirmation
Exclusion Criteria
18 Years
75 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Centre Hospitalier Universitaire de Nice
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Hôpital Archet 1
Nice, , France
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
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.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
13-AOI-01
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.