Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood and urine sampling.
- Who it may be relevant to
- Registry conditions: Noonan Syndrome. Basic parameters: 18 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome and to Identify Predictive Factors of Disease Progression
Overview
The present study will establish a collection of biological samples from Noonan patients to be used for research purposes only, with due respect for confidentiality.
Detailed description
Noonan syndrome is a rare autosomal dominant genetic disorder characterized by a combination of typical facial features, heart defects, short stature, skeletal abnormalities, mild developmental delay and a predisposition to myeloproliferative disorders. This syndrome is caused by germline mutations in genes encoding components or regulators of the Rat Sarcoma (RAS) / extracellular signal-regulated kinase (ERK) signaling pathway, which is essential for cell cycle differentiation, growth, and senescence.
Patients with Noonan syndrome or related diseases are followed at the children's hospital, Toulouse University Hospital. During regular check-up visits, an extra sample of blood and urine will be collected and stored for research utilisation with the patient's consent. The ultimate objective of this collection is to provide available biological resources to facilitate the development of subsequent studies aimed at better characterizing the multisystemic disorders in Noonan syndrome, to understand the pathophysiology of the disease, and to identify biological factors that predict the severity and progression of the disease. The possibility of having systematically collected biological resources will make it possible to answer certain questions more quickly depending on the progress of research.
Interventions
- Biological blood and urine sampling
extra sample of blood and urine will be collected
Primary outcome measures
- Constitution of a biological collection from patients with Noonan or related syndromes. [Time frame: inclusion]
Eligibility criteria
Inclusion criteria
- Children aged at least 3 years old or adult with Noonan syndrome
- Patients affiliated to or beneficiaries of a social security scheme
- Patients able to receive information on the progress of the study and understand the information form to participate in the study. That implies to master the French language and not to be subject to a restriction of rights by the judicial authorities
- Patients or legal representative who have given their consent to participate in the study (expression of no objection)
Exclusion criteria
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Purpan University Hospital — Toulouse
Identifiers
NCT: NCT05202210 · RC31/21/0361