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CompletedNCT02862808SHD-DIUpdated Jul 22, 2020

Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study

An observational study in Severe Intellectual Disability, sponsored by Centre Hospitalier Universitaire de Besancon. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2020-07-22.

Sponsored by Centre Hospitalier Universitaire de Besancon · Observational

Study type
Observational
Model
Case-only
Time perspective
Retrospective
Enrollment
18
Sex
All
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Study summary

Evaluation of diagnostic whole exome sequencing in patients with syndromic or isolated severe intellectual disability without a molecular diagnostic, with suspected autosomal recessive inheritance, allowing accurate genetic counseling in this high risk of recurrence group of diseases

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Conditions studied

  • Severe Intellectual Disability

Keywords

  • Whole exome sequencing
  • Molecular diagnostic
  • Genetic counselling
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In context

Intellectual Disability

363 studies on the registry are indexed under Intellectual Disability; 103 are open to participants now.

This study's enrollment of 18 is below the median of 200 across 114 observational studies indexed under Intellectual Disability.

Browse Intellectual Disability studies →

Lead sponsor

Centre Hospitalier Universitaire de Besancon is the lead sponsor of 439 studies on the registry; 97 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Retrospectively included patients presenting severe intellectual disability without a molecular diagnosis, born from consanguineous parents and / or with intra-familial recurrence, whose parents are requesting for molecular diagnosis, in a context of deadlock with conventional techniques

Inclusion criteria

  • Clinical diagnosis of syndromic or isolated severe intellectual disability (IQ \<50) without a molecular diagnosis
  • Recurrence in siblings (multiplex families) suggesting autosomal recessive inheritance (with or without parental consanguinity) or sporadic cases from a consanguineous union
  • Conventional genetic tests performed (including array-CGH) and MRI/CT-scan available
  • DNA samples from parents and from both unaffected or affected siblings available, for parental segregation and confirmation of candidate variations identified.
  • Availability of a signed informed consent
  • To be affiliated or beneficiary of French social security/healthcare system

Exclusion criteria

Exclusion Criteria:

  • Parents in the exclusion period of another study or as provided by the national register of volunteers
  • High-probability diagnostic hypothesis for which a molecular test is available at lower cost than exome sequencing
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Study design

Observational model
Case-only
Time perspective
Retrospective
Enrollment
18 participants (actual)
Patient registry
No
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What researchers measure

Primary outcomes

  1. Number of patients with a molecular diagnostic and diagnostic yield

    Time frame: up to 12 months

Secondary outcomes

  1. Cost/diagnostic ratio in comparison with conventional techniques

    Time frame: up to 12 months

  2. Reporting time in comparison with conventional techniques

    Time frame: up to 12 months

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Study locations

1 site
  • CHU Besancon
    Besancon, 25000, France
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 22, 2020, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT02862808
Lead sponsor
Centre Hospitalier Universitaire de Besancon
Responsible party
Sponsor
First posted
Aug 11, 2016
Start date
Mar 15, 2019
Primary completion
Dec 3, 2019
Completion
Dec 3, 2019
Last update
Jul 22, 2020

Study contacts

Paul Kuentz, MD
principal investigator · Centre Hospitalier Universitaire de Besancon

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jul 2020. You cannot join it, but the record below documents what was studied.

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