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Clinical Trial NCT07492199 (SEPASA) for Syndromic Neurodevelopmental Disorders (NDDs), Intellectual Developmental Disorders is not yet recruiting. See the Trial Radar Card View and AI discovery tools for all the details. Or ask anything here.
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High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear. (SEPASA) 50

Not yet recruiting
Clinical Trial NCT07492199 (SEPASA) is an observational study for Syndromic Neurodevelopmental Disorders (NDDs), Intellectual Developmental Disorders and is currently not yet recruiting. Enrollment is planned to begin on 1 April 2026 and continue until the study accrues 50 participants. Led by Centre Hospitalier Universitaire de Besancon, this study is expected to complete by 1 April 2029. The latest data from ClinicalTrials.gov was last updated on 25 March 2026.
Brief Summary
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups. However, identifying a precise etiological diagnosis is essential to optimize patient care, clarify their prognosis, consider targeted therapies, refer families to appropriate resources and support, ...Show More
Official Title

Evaluation of the Diagnostic Performance of High-depth Exome Sequencing on DNA From a Salivary Sample by Oral Smear in the Etiological Assessment of Patients With a Syndromic Neurodevelopmental Disorder or an Intellectual Development Disorder and for Which the Sequencing of the Genome on Blood Has Proved Inconclusive.

Conditions
Syndromic Neurodevelopmental Disorders (NDDs)Intellectual Developmental Disorders
Other Study IDs
  • SEPASA
  • 2026/1030
NCT ID Number
NCT07492199
Start Date (Actual)
2026-04-01
Last Update Posted
2026-03-25
Completion Date (Estimated)
2029-04-01
Enrollment (Estimated)
50
Study Type
Observational
Status
Not yet recruiting
Arms / Interventions
Participant Group/ArmIntervention/Treatment
N/A
genetic
buccal swab
Primary Outcome Measures
Outcome MeasureMeasure DescriptionTime Frame
Identification of a defined genetic cause by demonstrating at least one variation of class 4 (probably pathogenic) or 5 (pathogenic) according to the ACMG classification explaining the patient's symptoms.
2 years
Participation Assistant
Eligibility Criteria

Eligible Ages
Child, Adult, Older Adult
Eligible Sexes
All
  • Patient with syndromic neurodevelopmental disorder (NDD) or intellectual developmental disorder (IDD)
  • Trio genome sequencing on blood inconclusive
  • Men and women
  • All ages
  • No objection to participating in the study
  • Affiliation with a French social security system or beneficiary of such a system

  • Pregnant women and nursing mothers
  • Persons deprived of their liberty by judicial or administrative decision; persons undergoing compulsory psychiatric care; persons admitted to a health or social care facility for purposes other than research
  • Subjects who are in the exclusion period of another study or listed in the "national volunteer registry"
  • Genetic cause identified in the preliminary etiological assessment
  • Phenocopy: other likely non-genetic cause of TND (perinatal anoxia, infection, trauma, etc.)
  • Patients without health insurance
  • Patients unlikely to cooperate with the study and/or anticipated low cooperation by the investigator
Centre Hospitalier Universitaire de Besancon logoCentre Hospitalier Universitaire de Besancon
Study Central Contact
Contact: Juliette PIARD, Pr, 33381218187, [email protected]
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