DIACCIMEX- At a Glance


  • Sponsored by : University Hospital, Montpellier
  • Official Title: Non Invasive Prenatal Diagnosis (NIPD) on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases
  • Involves: Blood sample of mother and father 
  • Study type: Clinical Interventional trial
  • phase: N/A
  • Purpose : The purpose of this study is to develop and validate an analytical and clinical 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.
  • Status: see trial sites below for details on recruitment status



Eligibility Criteria

Ages Eligible for Study: 18 years and 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 ) 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







Trial site:  CHU Bordeaux 


Status:  Recruiting 

Address: Bordeaux, France, 33076



Contact: Cyrile Goizet, MD-PHD 


Telephone: +335 56 79 59 52


Email: Cyril.goizet@chu-bordeaux.fr





Trial site:  CHU Montpellier


Status:  Recruiting 

Address: Montpellier, France, 34295



Contact: Christine Coubes, MD


Telephone: +334 67 33 65 64  


Email: c-coubes@chu-montpellier.fr   





Trial site:  CHU Nice


Status: Recruiting 

Address: Nice, France, 06202



Contact: Cécile Rouzier, MD 


Telephone:+334 92 03 62 43


Email: rouzier.c@chu-nice.fr 





Trial site: CHU Nîmes


Status: Recruiting 

Address: Nîmes, France, 30029



Contact: Philippe Khau Van Kien, MD



Telephone: Not available at the moment 



Email: philippe.KHAUVANKIEN@chu-nimes.fr  




Trial site: CHU Rennes


Status: Recruiting 

Address: Rennes, France, 35203



Contact: Mélanie Fradin, MD



Telephone:  +332 99 26 58 51



Email: Melanie.FRADIN@chu-rennes.fr





Trial site: CHU Saint Brieuc


Status: Recruiting 

Address: Saint Brieuc, France, 22027



Contact: Mélanie Fradin, MD


Telephone:+332 99 01 72 68  






Trial site: CHU Strasbourg


Status: Recruiting 

Address: Schiltigheim, France, 67303



Contact: Romain Favre, MD-PHD


Telephone:+333 69 55 34 15


Email: main.favre3@gmail.com  




Trial site: CHU Toulouse



Status: Recruiting 

Address: Toulouse, France, 31059



Contact: Patrick Calvas, MD-PHD 

Telephone:+335 61 77 90 79


Email: calvas.p@chu-toulouse.fr