Clinical trial
Pilot Study of Ethiology Research by a Multidisciplinary Evaluation Then a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Name
RECHMPL22_0396
Description
Our 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. We propose to perform a two-step study. 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.
Trial arms
Trial start
2023-06-01
Estimated PCD
2026-06-01
Trial end
2027-06-01
Status
Not yet recruiting
Treatment
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
Arms:
200 patients with idiopathic short stature,
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
Arms:
200 patients with idiopathic short stature,
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.
Arms:
200 patients with idiopathic short stature,
Size
200
Primary endpoint
proportion of patients with authentified idiopathic short stature after multidisciplinary clinical-radiological analysis
3 years
Eligibility criteria
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
Protocol
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Updated at
2023-05-15
1 organization
1 product
1 indication
Organization
University Hospital, MontpellierIndication
Idiopathic Short Stature