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NCT05643274: HiFi-NDD
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
trial in Genetic Disease in 10 participants. Completed in 8 March 2024.
8 March 2023
Quick facts
| Lead sponsor | Nantes University Hospital |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 10 |
| Start date | 19 December 2022 |
| Primary completion | 8 March 2023 |
| Estimated completion | 8 March 2024 |
| Sites | 5 locations across France |
Conditions studied
- Genetic Disease — all drugs for Genetic Disease →
- Neurologic Disorder — all drugs for Neurologic Disorder →
- Developmental Delay Disorder — all drugs for Developmental Delay Disorder →
- Growth Disorders — all drugs for Growth Disorders →
Sponsor
Nantes University Hospital
Who can join
Eligibility, any sex, with Genetic Disease or Neurologic Disorder. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Patients with neurodevelopmental diseases and their families need to identify the genetic cause of the disease to allow for recognition of the disability, genetic counseling, and possible hope for participation in therapeutic research studies. Access to high-throughput genomic exome or genome analysis allows the identification of a genetic cause for approximately half of the patients. However, families with no result or with a variant of unknown significance after these tests may find themselves in a new diagnostic impasse. The high-throughput sequencing used today generates sequences of the order of 100 base pairs (so-called "short read" sequencing). This allows an analysis of about 90% of the genome. However, many regions are not accessible in regions of interest for the genetic diagnosis of rare diseases. Long fragment sequencing generates sequences that are about 20 times larger and its use has recently made it possible to sequence the human genome almost completely (https://www.science.org/doi/10.1126/science.abj6987). The main contribution lies in the analysis of complex regions of the genome such as segmental duplications or centromeric regions. It is likely that this technology increases the sensitivity of detection of genetic variants in patients with genetic diseases. Its contribution should be studied in patients for whom no genetic cause has been identified by classical techniques. This study aim to investigate the contribution of long fragment genome sequencing.
Publications & conference data
No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.
Verify or expand the search:
- PubMed search for NCT05643274
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
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Currently open trials in the same condition.
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- NCT07365254 — Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk · recruiting
- NCT06725901 — Pediatric Neurogenetic Diagnosis Support Platform · NA · recruiting
Other Nantes University Hospital trials
Trials by the same sponsor.
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- NCT07467382 — GOAT (Gait Observation of Achilles Tendon) · not yet recruiting
- NCT07490379 — Comparison of the Efficacy of Transcranial Direct Current Stimulation at Home Versus in Hospital Settings in Patients Wi · NA · not yet recruiting
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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 NCT05643274 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Nantes University Hospital
- Last refreshed: 24 April 2024
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/NCT05643274.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing