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