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Multidisciplinaire evaluatie en een genoombrede analyse in een cohort van idiopathische kleine gestaltepatiënten (PAG PETI)

4 november 2026 bijgewerkt door: University Hospital, Montpellier

Pilotstudie van ethisch onderzoek door een multidisciplinaire evaluatie en vervolgens een genoombrede analyse in een cohort van idiopathische patiënten met een kleine gestalte

This 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. A two-step study will be performed. 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.

Studie Overzicht

Toestand

Werving

Conditie

Interventie / Behandeling

Gedetailleerde beschrijving

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. A substantially higher proportion of diagnosed patients is therefore expected, along with more standardized clinical and genetic procedures. 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.

This 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. A two-step study will be performed. 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.

Studietype

Ingrijpend

Inschrijving (Geschat)

200

Fase

  • Niet toepasbaar

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studiecontact

Studie Locaties

  • Frankrijk
      • Le Kremlin-Bicêtre, Frankrijk, 94270
        • Werving
        • Endocrinologie et Diabétologie pédiatrique - Hôpital Kremlin Bicêtre - APHP
        • Contact:
      • Lyon, Frankrijk
      • Montpellier, Frankrijk, 34295
        • Werving
        • Service de Génétique Médicale - Arnaud de Villeneuve
        • Contact:
      • Toulouse, Frankrijk, 31059
        • Werving
        • Unité d'Endocrinologie, Maladies Osseuses et Génétique - Hôpital des Enfants, CHU de Toulouse
        • Contact:

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

4 jaar tot 18 jaar (Kind, Volwassen)

Accepteert gezonde vrijwilligers

Nee

Geslachten die in aanmerking komen voor studie

Allemaal

Beschrijving

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

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

  • Primair doel: Diagnostisch
  • Toewijzing: NVT
  • Interventioneel model: Opdracht voor een enkele groep
  • Masker: Geen (open label)

Wapens en interventies

Deelnemersgroep / Arm
Interventie / Behandeling
Experimenteel: 200 patients with idiopathic short stature,

200 patients with apparently idiopathic short stature,
Diagnostische toets: 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
Procedure: 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
Genetisch: 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.

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
proportion of patients with authentified idiopathic short stature after multidisciplinary clinical-radiological analysis
Tijdsspanne: 3 years

Primary endpoint:

The primary outcome is the proportion of patients with authentified idiopathic short stature after multidisciplinary clinical-radiological analysis (including geneticist, orthopedist, pediatric endocrinologist, radiologist) performed during a dedicated Multidisciplinary Consultation Meeting (MCM)
3 years

Secundaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
Genome positivity rate
Tijdsspanne: 3 years

Genome positivity rate (positive diagnosis of pathogenic variation or probably pathogenic variation variants involved in the phenotype) in the group of 30 patients with authentified idiopathic short stature patients in whom the genome analysis was performed
3 years
Rate of positivity of molecular analyses prescribed as part of the care following the PCR
Tijdsspanne: 3 years

Rate of positivity of molecular analyses prescribed as part of the care following the PCR (positive diagnosis of pathogenic or probably pathogenic variants involved in the phenotype) for patients with non-idiopathic short stature
3 years
Rate of modification of management by the results of genome analysis
Tijdsspanne: 3 years

Rate of modification of management by the results of genome analysis in the group of 30 patients with authentified idiopathic short stature in whom genome analysis has been performed
3 years
Type of change in management due to genome analysis results
Tijdsspanne: 3 years

Type of change in management due to genome analysis results: initiation/withdrawal of treatment, referral to organ specialist for specific multidisciplinary management (patients with authentified idiopathic short stature/ Genome+)
3 years
Rate of change in management by results of molecular analysis
Tijdsspanne: 3 years

Rate of change in management by results of molecular analysis performed in a patient-care context for those with non-idiopathic short stature
3 years
Type of management modification by molecular analysis resultscare context for those with non-idiopathic short stature
Tijdsspanne: 3 years

Type of management modification by molecular analysis results: initiation/withdrawal of treatment, referral to organ specialist for specific multidisciplinary management (patients with non-idiopathic short stature).
3 years
Parental satisfaction
Tijdsspanne: 3 years

Parental satisfaction will be assessed using a Visual Analog Scale (VAS) ranging from 0 to 10, where 0 indicates "not satisfied at all" and 10 indicates "completely satisfied." Higher scores indicate greater parental satisfaction. Assessments will be conducted following teleconsultations (Teleconsultation 1 and Teleconsultation 2).
3 years
Variants within the same gene identified in at least 2 patients by whole genome analysis
Tijdsspanne: 3 years

Variants within the same gene identified in at least 2 patients by whole genome analysis in the group of 30 patients with authentified idiopathic short stature in whom genome analysis has been performed
3 years

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

University Hospital, Montpellier

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Werkelijk)

16 maart 2026

Primaire voltooiing (Geschat)

1 maart 2029

Studie voltooiing (Geschat)

1 maart 2029

Studieregistratiedata

Eerst ingediend

7 april 2023

Eerst ingediend dat voldeed aan de QC-criteria

4 mei 2023

Eerst geplaatst (Werkelijk)

15 mei 2023

Updates van studierecords

Laatste update geplaatst (Werkelijk)

9 november 2026

Laatste update ingediend die voldeed aan QC-criteria

4 november 2026

Laatst geverifieerd

1 november 2026

Meer informatie

Termen gerelateerd aan deze studie

Trefwoorden

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • RECHMPL22_0396

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

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