AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

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

RecruitingNAAges 4 Years - 18 YearsAllUniversity Hospital, Montpellier
💬

In plain words

What the trial is, and whether it could suit you

This 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. A two-step study will be performed. 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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

📋 Eligibility rules (as published)
Inclusion Criteria: * Children aged 4 to 18 years * 2 sexes * Height less than -2.5DS (standard deviations of the AFPA- CRESS/Inserm -CompuGroup Medical 2018 curve) or less than -2DS of the TCP (parental target height, corresponding to the average of parental heights +6.5 cm in boys, -6.5 cm in girls) * Normal karyotype + FISH SHOX for girls * Previously performed:celiac disease antibodies, WBC-platelets, CRP, blood ionogram, creatinine, blood calcium, blood phosphorus, ASAT, ALAT, PAL, PTH, TSH, T4L, growth hormone test normal according to the standards of the laboratory of the CHU of Montpellier * Acceptance of X-rays, in addition to those already performed as part of the care, which will not be repeated if necessary: spine front and profile, pelvis front, 1 upper limb front, 1 lower limb front F, hands and feet front * Acceptance of photographs: whole body with underwear, face face and profile, 2 faces of hands; feet, face * Acceptance of blood samples for the child and the 2 parents (trio) * Consent signed by both parents Exclusion Criteria: * Intellectual disability (IQ below 70) * Cardiac, renal, digestive or cerebral malformation, cleft lip or palate, hearing or visual impairment, epilepsy * Renal or cardiac insufficiency, digestive or chronic inflammatory pathology * Previously established genetic diagnosis
💊

What it tests

  • Evaluation of the prevalence of truly (authentified) idiopathic short stature after multidisciplinary clinico-radiological evaluation
  • analysis in a multidisciplinary consultation meeting via a secure platform (ShareConfrère) for evaluation by multidisciplinary team
  • Whole genome analysis for authentified idiopathic short stature
📍

Where

1 site
Service de Génétique Médicale - Arnaud de Villeneuve
Montpellier, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy