Clinical Trials Logo

Clinical Trial Summary

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.


Clinical Trial Description

Detailed description: Establishing the etiological diagnosis of short stature is an important step to guide the therapeutic management of patients and to propose appropriate genetic counseling. Short stature can be a symptom of many pathologies. However, in the majority of cases (80%), no specific etiology is found during a pediatric clinical investigation. In this case, the diagnosis of "idiopathic" short stature is performed. However, the diagnostic and therapeutic management of short stature after exclusion of classical pediatric causes is extremely heterogeneous and there are currently no consensual recommendations. We could therefore expect to have a much higher proportion of diagnosed patients with more standardized procedures both clinical and genetic. Additionally, in recent years, new methods of genetic investigation (gene panel, whole exome or whole genome sequencing analysis) have made it possible to identify many genetic variants associated with apparently isolated short stature. So far, none of the publications reporting next-generation sequencing analysis have focused on patients with authentic idiopathic short stature, i.e. without associated bone anomalies or syndromic features, and are often focused on only a subset of target genes. Our trial aims at estimating 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, 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 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 authentic ISS is confirmed. All patients will have: - a pre-inclusion visit - an inclusion visit after which the multidisciplinary clinico-radiological evaluation will be held This analysis will assign patients to the diagnosis of either: 1. non-idiopathic short stature (diagnosis of constitutional bone disease or syndromic disorder) 2. authentic idiopathic short stature A teleconsultation (1) to explain to the parents the conclusions of the multidisciplinary clinico-radiological evaluation. This teleconsultation will be followed for all patients in the "non-idiopathic short stature" group, by a visit to take samples for genetic analysis in the context of clinical care, followed by a teleconsultation (2) to give them and explain the results This teleconsultation will be followed for the first 30 patients in the "authentified idiopathic short stature" group, by a visit to take samples for whole genome analysis in the context of research, followed by a teleconsultation (2) to return the results. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05858606
Study type Interventional
Source University Hospital, Montpellier
Contact
Status Not yet recruiting
Phase N/A
Start date June 1, 2023
Completion date June 1, 2027

See also
  Status Clinical Trial Phase
Not yet recruiting NCT06382155 - A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature Phase 2
Recruiting NCT05894876 - A Study of the Genetic Basis of Response to Growth Hormone Treatment in Children With Idiopathic Short Stature
Completed NCT01246219 - Short Stature Related Distress Phase 4
Completed NCT00965484 - Genotropin Study Assessing Use of Injection Pen Phase 3
Completed NCT00710307 - Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study)
Completed NCT01504802 - Pharmacodynamics of CNP During Growth Hormone Treatment N/A
Completed NCT01248416 - Aromatase Inhibitors, Alone And In Combination With Growth Hormone In Adolescent Boys With Idiopathic Short Stature Phase 3
Completed NCT00488124 - Growth Response in Short Children Suffering From a Disease With Growth Retardation and Treated With Somatropin Phase 2
Withdrawn NCT01438801 - Predictive Value of the Insulin-like Growth Factor-1 (IGF-1) Generation Test for the Growth Response to Growth Hormone Treatment (PRED-IGF) Phase 4
Recruiting NCT06309979 - A Study to Assess Growth in Children With Idiopathic Short Stature
Terminated NCT00121875 - Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Phase 4
Active, not recruiting NCT04020913 - Skeletal Muscle Effects of GH in Boys
Completed NCT01401244 - Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers Phase 1
Recruiting NCT02973061 - The Impact of the Use of Recombinant Human Growth Hormone on ADHD Characteristics in Children and Adolescents
Completed NCT01778023 - Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature Phase 3
Recruiting NCT01604395 - Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children
Active, not recruiting NCT00840944 - A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Phase 4
Completed NCT01070173 - Ghrelin Levels in Children With Poor Growth N/A
Completed NCT01543867 - Safety and Efficacy of Long-term Somatropin Treatment in Children N/A
Recruiting NCT04798690 - Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature