NIPD on CFTC for Triplet Repeat Diseases

NCT03087526 | Completed DMC

• 1 other identifier: RECHMPL17_0021
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 8

Brief Summary

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.

Conditions

Non Invasive Prenatal Diagnosis

Keywords

Non Invasive Prenatal Diagnosis (NIPD); Circulating Fetal Trophoblastic Cells (CFTC); Huntington's Disease; Myotonic Dystrophy Type 1; Fragile X syndrome; Spinocerebellar Ataxia type 1; Spinocerebellar Ataxia type 2; Spinocerebellar Ataxia type 3

Outcome Measures

Primary Outcomes (1)

• Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).

  Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.

  30 months

Secondary Outcomes (1)

• Non Invasive Prenatal Diagnostic test failure rate.

  30 months

Study Arms (1)

Couple at risk of transmitting a triplet-repeat disease

EXPERIMENTAL

Expectant couple (pregnant woman between 9 and 34 weeks of gestation and her spouse) at risk of transmitting a triplet-repeat related genetic disease among Huntington disease, Myotonic Dystrophy type 1, Fragile X syndrome, Spinocerebellar Ataxia type 1, Spinocerebellar Ataxia type 2, Spinocerebellar Ataxia type 3

Genetic: Non invasive prenatal diagnosis

Interventions

Non invasive prenatal diagnosis GENETIC

Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood

Couple at risk of transmitting a triplet-repeat disease

Eligibility Criteria

• Age: 18 Months+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (8)

CHU Bordeaux

Bordeaux, 33076, France

Location

CHU Montpellier

Montpellier, 34295, France

Location

CHU Nice

Nice, 06202, France

Location

CHU Nîmes

Nîmes, 30029, France

Location

CHU Rennes

Rennes, 35203, France

Location

CH Saint Brieuc

Saint-Brieuc, 22027, France

Location

CHU Strasbourg

Schiltigheim, 67303, France

Location

CHU Toulouse

Toulouse, 31059, France

Location

Related Publications (2)

• Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabieres C, Guissart C. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9.

  PMID: 32555262 RESULT

• Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossee M, Koenig M, Alix-Panabiere C, Guissart C, Vincent MC. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2.

  PMID: 35794169 RESULT

MeSH Terms

Conditions

Huntington Disease; Myotonic Dystrophy; Fragile X Syndrome; Spinocerebellar Ataxias; Machado-Joseph Disease

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Dementia; Chorea; Dyskinesias; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cognition Disorders; Neurocognitive Disorders; Mental Disorders; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Neuromuscular Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Genetic Diseases, X-Linked; Cerebellar Ataxia; Cerebellar Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Ataxia

Study Officials

• Marie Claire VINCENT, PhD-PharmaD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 23, 2017
• First Posted: March 22, 2017
• Study Start: June 12, 2017
• Primary Completion: April 1, 2020
• Study Completion: April 1, 2020
• Last Updated: October 3, 2025

Record last verified: 2025-09

Locations

FR (8)