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NCT04698551
NIPD on cffDNA for Triplet Repeat Diseases
trial testing Non invasive prenatal diagnosis in Myotonic Dystrophy 1 in 36 participants. Status unknown.
1 September 2023
Quick facts
| Lead sponsor | University Hospital, Montpellier |
|---|---|
| Status | Status unknown |
| Study type | OBSERVATIONAL |
| Enrollment | 36 |
| Start date | 1 September 2020 |
| Primary completion | 1 September 2023 |
| Estimated completion | 1 December 2023 |
| Sites | 1 location across France |
Drugs / interventions tested
- Non invasive prenatal diagnosis
Conditions studied
- Myotonic Dystrophy 1 — all drugs for Myotonic Dystrophy 1 →
- Huntington Disease — all drugs for Huntington Disease →
- Fragile X Syndrome — all drugs for Fragile X Syndrome →
Sponsor
University Hospital, Montpellier
Who can join
18 Months and older, any sex, with Myotonic Dystrophy 1 or Huntington Disease. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The purprose of this study is to develop and validate an analytical NIPD test for triplet repeat disesases by NGS 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, Myotonic dystrophy, Fragile X syndrome.. A comparison of two 3rd generation long fragment DNA sequencing techniques will be performed. These methods are based of the phasing techniques of parental haplotypes without the proband.
Publications & conference data
1 peer-reviewed publication reference this trial (live from Europe PMC):
-
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Liautard-Haag C, Durif G, VanGoethem C, Baux D, et al · · 2022 · cited 4× · PMID 35794169 · DOI 10.1038/s41598-022-15307-2
Verify or expand the search:
- PubMed search for NCT04698551
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other trials of Non invasive prenatal diagnosis
Trials testing the same drug.
- NCT03743948 — NIPD of CFTC by WGA Coupled to Mini-exome Sequencing · NA · unknown
- NCT03087526 — NIPD on CFTC for Triplet Repeat Diseases · NA · completed
Other recruiting trials for Myotonic Dystrophy 1
Currently open trials in the same condition.
- NCT07385443 — The Spanish National Registry for Myotonic Dystrophy Type 1 · recruiting
- NCT06378216 — Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation [MDCJ-NeuBeRe] · recruiting
- NCT03981575 — Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) · recruiting
Other University Hospital, Montpellier trials
Trials by the same sponsor.
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- NCT07534189 — Prospective Cohort Study Evaluating a Thermal Spa Programme in Symptomatic Knee Osteoarthritis · NA · not yet recruiting
- NCT07515638 — Immun4Cure Cohort of Autoimmune Diseases · not yet recruiting
- NCT07406516 — Identification of Kinematic Variables Specific of Patellar Tendinopathy in Athletes at Risk · NA · not yet recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT04698551 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by University Hospital, Montpellier
- Last refreshed: 7 January 2021
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT04698551.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing