Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study
NOORHA
1 other identifier
observational
71
1 country
4
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 abnormalities and joint involvement. These are poorly described in the literature. The aim of this work is therefore to describe the frequency and type of these manifestations in the French pediatric population and to compare patients with and without these disorders.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jul 2019
Shorter than P25 for all trials
4 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
June 5, 2019
CompletedStudy Start
First participant enrolled
July 2, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 28, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
March 28, 2020
CompletedFirst Posted
Study publicly available on registry
August 13, 2024
CompletedAugust 13, 2024
June 1, 2020
9 months
June 5, 2019
August 8, 2024
Conditions
Outcome Measures
Primary Outcomes (2)
Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.
Joint disorders
Inclusion (Day 0)
Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.
hematologic disorders
Inclusion (Day 0)
Secondary Outcomes (2)
Comparison of patients with and without joint involvement.
Inclusion (Day 0), Each year
Comparison of patients with and without joint involvement.
Inclusion (Day 0), Each year
Eligibility Criteria
French pediatric population, followed for a syndrome of Noonan clinically confirmed by the criteria of Van der Burgt.
You may qualify if:
- Patients ≤ 20 years at the time of diagnosis
- Noonan syndrome confirmed by van der Burgt score
- At least one consultation in the participating center
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (4)
CHRU de Brest
Brest, 29609, France
CHU de Caen
Caen, 14033, France
CHU de Nantes
Nantes, 44093, France
CHU de Toulouse
Toulouse, 31000, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 5, 2019
First Posted
August 13, 2024
Study Start
July 2, 2019
Primary Completion
March 28, 2020
Study Completion
March 28, 2020
Last Updated
August 13, 2024
Record last verified: 2020-06