Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short St
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
| Condition(s) | Idiopathic Short Stature |
|---|---|
| Status | Recruiting |
| Phase | NA |
| Study type | Interventional |
| Summary | 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. |
| Who can participate | 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 lim |
| Ages | 4 Years to 18 Years |
| Sex | All |
| Lead sponsor | University Hospital, Montpellier |
| Locations | Montpellier, France |
| Start date | 2026-03-16 |
| NCT ID | NCT05858606 |
| Official listing | https://clinicaltrials.gov/study/NCT05858606 |