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Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes

NCT02486731 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 27

Last updated 2021-08-26

No results posted yet for this study

Summary

Noonan and LEOPARD syndromes share, with variable severity, different clinical traits, notably craniofacial manifestations, cardiopathies, short stature, and juvenile cancers.

The main genetic cause of these syndromes is missense mutation of the gene encoding the ubiquitous tyrosine phosphatase Shp2, found in more than half the patients with NS and in 80% of LS cases. Shp2 plays pivotal roles in development, growth, and metabolism by regulating key signalling pathways (Ras/Mitogen activated protein kinase (MAPK), Phosphoinositide-3 Kinases (PI3K)/Akt) in response to growth factors/hormones. Deregulation of these signalling pathways has been causally linked to NS and LS pathophysiology.

This project aims at better understanding hormonal sensitivity abnormalities in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) caused by mutations of the tyrosine phosphatase Shp2.

To reach this goal, the investigators will take advantage of different tissues (fibroblasts ± adipocytes) from patients with NS / LS compared to healthy controls.

All patients will have a skin biopsy and only patients about to undergo surgery will have a adipose tissue biopsy.

Conditions

  • Noonan Syndrome
  • LEOPARD Syndrome

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Eligibility

Min Age
5 Years
Max Age
15 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-12-16
Primary Completion
2018-12-31
Completion
2018-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02486731 on ClinicalTrials.gov