Multidisciplinary evaluation and whole-genome testing for children with unexplained short stature

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The project uses a two-step approach: first a standardized multidisciplinary clinico-radiological review to confirm truly idiopathic short stature after excluding common pediatric and endocrine causes, and then whole-genome sequencing for the first 30 confirmed cases. Eligible children have height below -2.5 SD (or below -2 SD of parental target height), normal basic laboratory and endocrine testing, and normal karyotype with FISH SHOX for girls. Imaging (spine, pelvis, limbs, hands/feet) and standardized photographs are collected, and cases are discussed via a secure multidisciplinary platform. The aim is to standardize diagnostic workup and determine how often monogenic causes explain apparently isolated short stature.

Why it matters

Who can join: the full rules

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

Where it's running

• Endocrinologie et Diabétologie pédiatrique - Hôpital Kremlin Bicêtre - APHP
  Le Kremlin-Bicêtre, France Recruiting
• Hcl
  Lyon, France Recruiting
• Service de Génétique Médicale - Arnaud de Villeneuve
  Montpellier, France Recruiting
• Unité d'Endocrinologie, Maladies Osseuses et Génétique - Hôpital des Enfants, CHU de Toulouse
  Toulouse, France Recruiting

Study contacts

• Study coordinator: Marjorlaine WILLEMS, MD
• Email: m-willems@chu-montpellier.fr
• Phone: +33467336367

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Assessing Growth in Children with Short Stature

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• Evaluating the long-term safety and effectiveness of Growtropin®-II in children with short stature

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.