Pilot Study of Etiology Research by Multidisciplinary Evaluation and Genome-wide Analysis in Children with Idiopathic Short Stature

What this Trial Is About

Researchers are investigating idiopathic short stature (ISS) in children aged 4 to 18 years whose growth measurements are below defined standard deviations but above certain parental target height thresholds. The study aims to better understand the true prevalence of ISS after excluding common pediatric and endocrine causes and to explore the genetic origins of ISS through advanced genome sequencing. This trial involves a detailed assessment to classify children as having either ISS or other bone or syndromic conditions. Participants undergo a two-step process beginning with a thorough multidisciplinary clinical and radiological evaluation involving medical history, physical examination, photographs, and X-rays. Based on this evaluation, patients are assigned to either the ISS group or a non-ISS group. For the first 30 children confirmed with ISS, whole genome sequencing analysis is performed along with their parents to identify potential genetic causes. Results are communicated via teleconsultations. Throughout the study, children will attend multiple visits including pre-inclusion and inclusion consultations, teleconsultations to discuss findings, and sample collection visits for genetic testing. Researchers will monitor the proportion of children with confirmed ISS, genetic analysis results, changes in medical care based on these findings, and parental satisfaction. The study captures data over three years, aiming to improve diagnosis and management for children with short stature.

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