Actively Recruiting
Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Led by University Hospital, Montpellier · Updated on 2026-05-06
200
Participants Needed
1
Research Sites
154 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children aged 4 to 18 years
- Both male and female sexes
- Height less than -2.5 standard deviations on the AFPA-CRESS/Inserm 2018 curve or less than -2 standard deviations of the parental target height
- Normal karyotype and FISH SHOX testing for girls
- Previous normal results for celiac disease antibodies, blood counts, inflammatory markers, kidney function, calcium and phosphorus levels, liver enzymes, parathyroid hormone, thyroid function, and growth hormone tests
- Agreement to additional X-rays if needed (spine, pelvis, limbs, hands, and feet)
- Agreement to photographs including whole body, face, hands, and feet
- Agreement to blood samples from the child and both parents
- Signed consent from both parents
You will not qualify if you...
- Intellectual disability with IQ below 70
- Presence of cardiac, kidney, digestive, or brain malformations
- Cleft lip or palate
- Hearing or visual impairments
- Epilepsy
- Kidney or heart failure
- Chronic digestive or inflammatory diseases
- Previously established genetic diagnosis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Service de Génétique Médicale - Arnaud de Villeneuve
Montpellier, France, 34295
Actively Recruiting
Research Team
M
Marjorlaine WILLEMS, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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