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 SITES

 

FRANCE

 

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  

 

Email:Melanie.FRADIN@chu-rennes.fr

 

 

 

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