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Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles

NCT05643274 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2024-04-24

No results posted yet for this study

Summary

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.

Conditions

  • Genetic Disease
  • Neurologic Disorder
  • Developmental Delay Disorder
  • Growth Disorders

Sponsors & Collaborators

  • Rennes University Hospital

    collaborator OTHER

  • University Hospital, Angers

    collaborator OTHER_GOV

  • University Hospital, Brest

    collaborator OTHER

  • University Hospital, Tours

    collaborator OTHER

  • Nantes University Hospital

    lead OTHER

Principal Investigators

  • Stéphane BEZIEAU, MD · Nantes University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-12-19
Primary Completion
2023-03-08
Completion
2024-03-08

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05643274 on ClinicalTrials.gov