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

Developmental Anomalies Clinical Trial

— DISCOVERY  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03287193
• Other study ID #: OLIVIER-FAIVRE 2016
• Status: Recruiting
• Start date: March 13, 2017
• Est. completion date: December 2027

Study information

• Verified date: February 2024
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 850
• Est. completion date: December 2027
• Est. primary completion date: March 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients (foetus/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

Related Conditions & MeSH terms

• Developmental Anomalies

Intervention

Biological:
• Blood sample
for patient and its parents

Genetic:
• high-throughput sequencing
exome or whole genome sequencing

Locations

Country	Name	City	State
France	Chu Dijon Bourogne	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of new genes identified.		through study completion, an average of 5 years