Analyzing blood abnormalities in children with RAS mutations
Hematological Anomalies in Children With Rasopathy
This study looks at blood issues in children with RAS mutations to see how these problems develop over time and to help improve their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | N/A to 15 Years |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 14 sites (Angers and 13 other locations) |
| Trial ID | NCT04286360 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on children diagnosed with RASopathies, such as Noonan syndrome, to investigate various hematological anomalies that may arise. It aims to analyze peripheral blood cell counts and smears at diagnosis and one year later, tracking the incidence, age of occurrence, and evolution of these abnormalities. The study includes biobanking for patients under three years of age to facilitate further research. The findings will help establish guidelines for screening and follow-up care in affected children.
Who should consider this trial
Good fit: Ideal candidates are children under 16 years old with a newly diagnosed genetically confirmed RASopathy.
Not a fit: Patients with a history of hematological malignancy will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the understanding and management of hematological issues in children with RASopathies, potentially preventing severe complications.
How similar studies have performed: While similar studies have explored hematological anomalies in related conditions, this specific longitudinal approach to RASopathies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age \< 16 years * Patient newly diagnosed with genetically confirmed rasopathy : Noonan syndrome, type 1 neurofibromatosis, Noonan syndrome with multiple lentigines, CBL syndrome, Costello syndrome, cardiofaciocutaneous syndrome or Legius syndrome i.e. with a germline mutation of one of these genes: PTPN11, SOS1, NRAS, RAF1, BRAF, SHOC2, MEK1, MEK2, CBL, NF1, SPRED1, KRAS, HRAS, NF1, SHOC2, LZTR1, SOS2, RIT1, RASA2, RRAS, PPP1CB, or a new gene of interest published during the recruitment period * No history of hematological malignancy * Written informed consent obtained from the parents * Health insurance Exclusion Criteria: * History of malignant hematological pathology
Where this trial is running
Angers and 13 other locations
- CHU Angers — Angers, France (Recruiting)
- CHU Caen — Caen, France (Recruiting)
- CHU Lille — Lille, France (Recruiting)
- CHU Lyon — Lyon, France (Recruiting)
- CHU Marseille - Hôpital de la Timone — Marseille, France (Recruiting)
- CHU Montpellier — Montpellier, France (Recruiting)
- CHU Nantes — Nantes, France (Recruiting)
- Hôpital Necker APHP — Paris, France (Recruiting)
- Hôpital Robert Debré APHP — Paris, France (Recruiting)
- Hôpital Robert Debré APHP — Paris, France (Recruiting)
- Hôpital Trousseau APHP — Paris, France (Recruiting)
- CHU Rennes — Rennes, France (Recruiting)
- CHU Strasbourg — Strasbourg, France (Recruiting)
- CHU Toulouse — Toulouse, France (Recruiting)
Study contacts
- Study coordinator: Marion STRULLU, MD
- Email: marion.strullu@aphp.fr
- Phone: 187891611
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.