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

Last updated: December 5, 2024
Sponsor: University Hospital, Toulouse
Overall Status: Active - Recruiting

Phase

N/A

Condition

Hypogonadism

Severe Short Stature

Treatment

blood and urine sampling

Clinical Study ID

NCT05202210
RC31/21/0361
  • Ages 18-99
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

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 theinformation form to participate in the study. That implies to master the Frenchlanguage and not to be subject to a restriction of rights by the judicialauthorities

  • Patients or legal representative who have given their consent to participate in thestudy (expression of no objection)

Exclusion

Exclusion Criteria:

  • Patients subject to a legal protection measure (guardianship, curators, or safeguardof justice)

  • Pregnant or breastfeeding women

Study Design

Total Participants: 100
Treatment Group(s): 1
Primary Treatment: blood and urine sampling
Phase:
Study Start date:
January 26, 2022
Estimated Completion Date:
January 26, 2032

Study 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.

Connect with a study center

  • Purpan University Hospital

    Toulouse, 31059
    France

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.