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

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, 33076

CONTACT
Cyrile Goizet
Tel.:+335 56 79 59 52
cyril.goizet@chu-bordeaux.fr 

Not Recruiting

TRIAL SITE: 
CHU Montpellier

Address: Montpellier, France, 34295

CONTACT
Christine Coubes
Tel: +334 67 33 65 64 
c-coubes@chu-montpellier.fr  

 

Not Recruiting

TRIAL SITE: 
CHU Nice

Address: Nice, France, 06202

CONTACT
Cécile Rouzier, MD 
Tel: 334 92 03 62 43
rouzier.c@chu-nice.fr

Not Recruiting

TRIAL SITE:
CHU Nîmes

Address: Nîmes, France, 30029

CONTACT
Philippe Khau Van Kien, MD
philippe.KHAUVANKIEN@chu-nimes.fr 

Not Recruiting

TRIAL SITE: 
CHU Rennes

Address: Rennes, France, 35203

CONTACT
Mélanie Fradin
Tel: +332 99 26 58 51
Melanie.FRADIN@chu-rennes.fr

Not Recruiting

TRIAL SITE: 
CHU Saint Brieuc

Address: Saint Brieuc, France, 22027

 

Not Recruiting

TRIAL SITE:
CHU Strasbourg

Address: Schiltigheim, France, 67303

CONTACT
Romain Favre, MD-PHD
Tel.:+333 69 55 34 15
main.favre3@gmail.com 

Not Recruiting

TRIAL SITE: 
CHU Toulouse

Address: Toulouse, France, 31059

CONTACT
Patrick Calvas
Tel.:+335 61 77 90 79
calvas.p@chu-toulouse.fr  

 

Not Recruiting