Status:
UNKNOWN
NIPD on cffDNA for Triplet Repeat Diseases
Lead Sponsor:
University Hospital, Montpellier
Collaborating Sponsors:
Agence de La Biomédecine
Conditions:
Myotonic Dystrophy 1
Huntington Disease
Eligibility:
All Genders
18+ years
Brief Summary
The purprose of this study is to develop and validate an analytical NIPD test for triplet repeat disesases by NGS analysis from maternal blood, searching for the familial mutation in families at risk ...
Detailed Description
Context: The ability to sequence fetal cfDNA has led to exciting new developments for the non-invasive genetic diagnosis of monogenic diseases (DPNI\_MGR). Various tests are proposed for diseases wit...
Eligibility Criteria
Inclusion
- Inclusion criteria:
- Couple at risk (based on family history or echographic findings) for one of the following diseases: Huntington's disease, Steinert's myotonic dystrophy, fragile X
- Written informed consent was obtained for DIACCIMEX study and mentionned "authorization for use for further studies on familial pathology. Indeed, the DNA can be used anonymized for the development of new analyzes of non-invasive prenatal diagnosis".
- Prenatal diagnosis has been done for the pregnancy during which maternal blood has been collected
- Couple molecular diagnosis results for one of the following diseases (Huntington's disease, Steinert's myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3 ) MUST BE AVAILABLE.
- Exclusion criteria:
- Couple Genomic DNA are unavailable
- Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
- Individuals under guardianship by court order
Exclusion
Key Trial Info
Start Date :
September 1 2020
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2023
Estimated Enrollment :
36 Patients enrolled
Trial Details
Trial ID
NCT04698551
Start Date
September 1 2020
End Date
December 1 2023
Last Update
January 7 2021
Active Locations (1)
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1
CHU Montpellier
Montpellier, France, 34295