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Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Sponsor: University Hospital, Montpellier
Summary
Our trial aims to evaluate the prevalence of idiopathic short stature among children whose growth is above -2,5SD (AFPA- CRESS/Inserm -CompuGroup Medical 2018 curve) or above -2SD of the parental target size (taking child gender into account), after exclusion of classical pediatric and endocrinologic pathologies, and to evaluate the prevalence of monogenic causes of idiopathic short stature. We propose to perform a two-step study. The first one consists in a standardized multidisciplinary clinico-radiological evaluation of those children to evaluate the real prevalence of idiopathic short stature (ISS) among these patients. The second step consists in performing a whole genome sequencing analysis in the 30 first patients for whom the diagnosis of ISS is confirmed.
Official title: Pilot Study of Ethiology Research by a Multidisciplinary Evaluation Then a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Key Details
Gender
All
Age Range
4 Years - 18 Years
Study Type
INTERVENTIONAL
Enrollment
200
Start Date
2023-06-01
Completion Date
2027-06-01
Last Updated
2023-05-15
Healthy Volunteers
No
Conditions
Interventions
Evaluation of the prevalence of truly (authentified) idiopathic short stature after multidisciplinary clinico-radiological evaluation
1. pre-inclusion consultation 2. inclusion consultation * personal history * height, weight, cranial perimeters, and spans of both parents * clinical examination of the child * photographs of the child * additional X-rays
analysis in a multidisciplinary consultation meeting via a secure platform (ShareConfrère) for evaluation by multidisciplinary team
multidisciplinary team (geneticist, orthopedist, radiologist, pediatric endocrinologist) which will assign each patient an orientation: * either to the non idiopathic short stature group (syndromic diagnostic orientation or to a constitutional bone pathology) * or to the authentified idiopathic short stature group
Whole genome analysis for authentified idiopathic short stature
For the first 30 patients included in the authentified idiopathic short stature group, a whole genome analysis in trio (child + parents) will be performed as part of the research. For these 30 patients in the authentified idiopathic short stature group, the teleconsultation carried out for the submission of the multidisciplinary consultation meeting conclusions will make it possible to establish the family tree, to explain the interest and limits of the analysis, and to submit the consents dedicated to the genetic analysis.