Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome

Toulouse University Hospital

Status

Enrolling

Conditions

Noonan Syndrome

Treatments

Biological: blood and urine sampling

Study type

Observational

Funder types

Other

Identifiers

NCT05202210

RC31/21/0361

Details and patient eligibility

About

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.

Full 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.

Enrollment

100 estimated patients

Sex

All

Ages

18 to 99 years old

Volunteers

No Healthy Volunteers

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