Status:
COMPLETED
Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study
Lead Sponsor:
University Hospital, Brest
Conditions:
Noonan Syndrome
Eligibility:
All Genders
Up to 20 years
Brief Summary
Noonan's syndrome is a rare genetic disease, estimated to be between 1: 1000 to 1: 2500 and characterized by cardiothoracic malformations, sometimes mental retardation, but also by hematologic abnorma...
Detailed Description
Noonan Syndrome is a genetic disease whose prevalence is not clearly defined and would be between 1/1000 and 1/2500. Affected patients have various morphological abnormalities, cardiothoracic malform...
Eligibility Criteria
Inclusion
- Patients ≤ 20 years at the time of diagnosis
- Noonan syndrome confirmed by van der Burgt score
- At least one consultation in the participating center
Exclusion
- Patient \> 20 years old at the time of diagnosis
- Absence of diagnostic criteria for van der Burgt's Noonan syndrome
- Other rasopathies
- Genetic mutations of MEK1, MEK2 and HRAS (which are associated with cardi-faci-cutaneous syndrome and Costello syndrome)
- Refusal of participation in the study
Key Trial Info
Start Date :
July 2 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 28 2020
Estimated Enrollment :
71 Patients enrolled
Trial Details
Trial ID
NCT06550635
Start Date
July 2 2019
End Date
March 28 2020
Last Update
August 13 2024
Active Locations (4)
Enter a location and click search to find clinical trials sorted by distance.
1
CHRU de Brest
Brest, France, 29609
2
CHU de Caen
Caen, France, 14033
3
CHU de Nantes
Nantes, France, 44093
4
CHU de Toulouse
Toulouse, France, 31000