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

NCT ID: NCT05202210

Last Updated: 2024-12-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-01-26

Study Completion Date

2032-01-26

Brief Summary

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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

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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.

Conditions

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Noonan Syndrome

Keywords

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Biological collection Noonan Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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patients with Noonan syndrome

extra sample of blood and urine will be collected and stored for research utilisation

blood and urine sampling

Intervention Type BIOLOGICAL

extra sample of blood and urine will be collected

Interventions

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blood and urine sampling

extra sample of blood and urine will be collected

Intervention Type BIOLOGICAL

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Toulouse

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Thomas EDOUARD, MD PhD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Toulouse

Locations

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Purpan University Hospital

Toulouse, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Thomas EDOUARD, MD, PhD

Role: CONTACT

Phone: 5 34 55 85 55

Email: [email protected]

Françoise Auriol, PhD

Role: CONTACT

Phone: 5 67 77 10 95

Email: [email protected]

Facility Contacts

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Françoise Auriol, PhD

Role: primary

Other Identifiers

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RC31/21/0361

Identifier Type: -

Identifier Source: org_study_id