DISCOVERY: Identification of the Molecular and/or Pathophysiological Bases of Developmental Diseases

• Sponsor: Centre Hospitalier Universitaire Dijon (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT03287193
• Collaborator: (none)
• Enrollment: 850
• Location: 1
• Anticipated Duration (Months): 128.6
• Patients Per Site Per Month: 6.6

Study Details

Study Description

Brief Summary

Developmental diseases include more than 3000 diseases and can associate organ malformation, dysmorphism, development disorders and/or intellectual deficiency. Even though the considerable effort in the search for genes in the last 20 years has led to the identification of thousands of genes associated with Mendelian diseases, half of the individuals with severe development anomalies remain without a genetic diagnosis. It is important to pursue the ambition to contribute to the goal fixed by Europe, namely the identification of the large majority of genes responsible for rare diseases with development anomalies, and to be able to provide genetic counselling to patients and their families. In the past, scientific research to discover genes required a large number of families and individuals and was slow and expensive to carry out. Today, this approach has been facilitated by next generation sequencing.

Condition or Disease	Intervention/Treatment	Phase
Developmental Anomalies	Biological: Blood sample; Genetic: high-throughput sequencing

Study Design

• Study Type: Observational
• Anticipated Enrollment: 850 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Identification of the Molecular and/or Pathophysiological Bases of Developmental Diseases
• Actual Study Start Date: Mar 13, 2017
• Anticipated Primary Completion Date: Mar 1, 2027
• Anticipated Study Completion Date: Dec 1, 2027

Outcome Measures

Primary Outcome Measures

1. Number of new genes identified. [through study completion, an average of 5 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

• Patients (children and adults) with development anomalies whose molecular bases are unknown, or for which the pathophysiological mechanism is poorly understood

• Consent of the patient or his/her legal representative

• Suitable level of understanding

Exclusion Criteria:

• Patients without national health insurance cover

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Chu Dijon Bourogne	Dijon		France	21000

Sponsors and Collaborators

• Centre Hospitalier Universitaire Dijon

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Centre Hospitalier Universitaire Dijon
• ClinicalTrials.gov Identifier: NCT03287193
• Other Study ID Numbers: OLIVIER-FAIVRE 2016
• First Posted: Sep 19, 2017
• Last Update Posted: May 17, 2022
• Last Verified: May 1, 2022

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Study Results

No Results Posted as of May 17, 2022