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

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · May 4, 2023

Keywords

ClinConnect Summary

This clinical trial is studying children who are shorter than expected for their age, a condition known as idiopathic short stature (ISS), which means there is no known medical reason for their height. The goal is to better understand how common ISS is and to investigate if there are any genetic factors that might be causing it. The study will involve a thorough check-up by a team of specialists and will include detailed genetic testing for the first 30 children diagnosed with ISS.

To be eligible for this study, children must be between 4 to 18 years old and shorter than a certain height based on growth charts. They should also have undergone specific medical tests to rule out other health issues. Participants will need to agree to some extra tests, including X-rays and blood samples, and both parents must give their consent for their child to take part. It's important to note that children with certain health conditions or disabilities will not be included in this trial. Overall, participants can expect a comprehensive evaluation to help improve understanding and treatment of idiopathic short stature.

Gender

ALL

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