Molecular Diagnosis of Syndromic or Isolated Severe Intellectual

Clinical Trial 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

See also
	Status	Clinical Trial	Phase
	Completed	`NCT02136849` - Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic

See also

Status

Clinical Trial

Phase

Completed

NCT02136849 - Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic

Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.

Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.

Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

NCT number	NCT02862808
Study type	Observational
Source	Centre Hospitalier Universitaire de Besancon
Contact
Status	Completed
Phase
Start date	March 15, 2019
Completion date	December 3, 2019

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

Clinical Trial Summary

Clinical Trial Description

Study Design

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