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

Recruiting now · Not applicable

Conditions studied: Idiopathic Short Stature

In brief

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.

Key facts

Study ID

NCT05858606

Run by

University Hospital, Montpellier

People needed

200

Starts

2026-03-16

Expected to finish

2029-03-01

Last updated by the study team

2026-05-06

Who can join

Age: 4 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Service de Génétique Médicale - Arnaud de Villeneuve — Montpellier, France (enrolling)

Full record on ClinicalTrials.gov

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