An observational study in Noonan Syndrome and LEOPARD Syndrome, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Completed at 1 site in France. Open to participants aged 5 Years to 15 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2021-08-26.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
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.
The activation of different signaling pathways (Ras/MAPK, PI3K/Akt) in response to growth factors/hormones (growth hormone, insulin) in fibroblasts and/or in adipocytes from patients with NS or LS will be compared to those of healthy subjects.
These data will be correlated to clinical, hormonal, and biochemical characteristics of patients
37 studies on the registry are indexed under Noonan Syndrome; 17 are open to participants now.
This study's enrollment of 27 is below the median of 221 across 13 observational studies indexed under Noonan Syndrome.
Browse Noonan Syndrome studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 375 studies on the registry; 82 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Data collected in patients with Noonan or LEOPARD syndromes will be compared to data of healthy subjects.
Patients with Noonan syndrome (NS) or LEOPARD syndrome (LS):
Healthy controls:
Exclusion Criteria:
In healthy controls: syndromic or chronic disease
Patients with Noonan syndrome
Patients with LEOPARD syndromes
Healthy subjects
Phosphorylation of Erk and Akt in fibroblasts
To evaluate different signaling pathways activation (Ras/MAPK, PI3K/Akt) in response to growth factors/hormones (growth hormone, insulin) in fibroblasts from patients with NS or LS compared to healthy controls
Time frame: Baseline
Phosphorylation of Erk and Akt in adipocytes
To evaluate different signaling pathways activation (Ras/MAPK, PI3K/Akt) in response to growth factors/hormones (growth hormone, insulin) in adipocytes from patients with NS or LS compared to healthy controls
Time frame: Baseline
This study is completed, as verified in Aug 2021. You cannot join it, but the record below documents what was studied.
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Institut National de la Santé Et de la Recherche Médicale, France