Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients

NANot yet recruitingINTERVENTIONAL
Enrollment

200

Participants

Timeline

Start Date

June 1, 2023

Primary Completion Date

June 1, 2026

Study Completion Date

June 1, 2027

Conditions
Idiopathic Short Stature
Interventions
DIAGNOSTIC_TEST

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"

PROCEDURE

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"

GENETIC

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."

All Listed Sponsors
lead

University Hospital, Montpellier

OTHER

NCT05858606 - Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients | Biotech Hunter | Biotech Hunter