DIACCIMEX

Non Invasive Prenatal Diagnosis (NIPD) on circulating fetal trophoblastic cells (CFTC) for Triplet Repeat Diseases

Completed

ABOUT

SPONSOR

University Hospital, Montpellier

PARTICIPANTS

60

The main objective of DIACCIMEX is to develop and validate an analytical and clinical Non-Invasive Prenatal Diagnosis (NIPD) test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington’s disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.

Completion Date: 1 April, 2020

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Ages Eligible for Study:

18 Years and older (Adult, Older Adult)

Sexes Eligible for Study:

Female

Accepts Healthy Volunteers:

Yes

Inclusion Criteria

  • older than 18 years old
  • pregnant woman between 9 and 34 weeks of gestation
  • 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 and spinocerebellar ataxias 1, 2 or 3
  • Written informed consent was obtained for the study
  • Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is 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 )

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

FRANCE

TRIAL SITE:
CHU Bordeaux
Address: Bordeaux, France

TRIAL SITE: 
CHU Montpellier
Address: Montpellier, France

TRIAL SITE: 
CHU Nice
Address: Nice, France

TRIAL SITE:
CHU Nîmes
Address: Nîmes, France

TRIAL SITE: 
CHU Rennes
Address: Rennes, France

TRIAL SITE: 
CHU Saint Brieuc
Address: Saint Brieuc, France

TRIAL SITE:
CHU Strasbourg
Address: Schiltigheim, France

TRIAL SITE: 
CHU Toulouse
Address: Toulouse, France