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Avaliação multidisciplinar e análise ampla do genoma em uma coorte de pacientes com baixa estatura idiopática (PAG PETI)

4 de novembro de 2026 atualizado por: University Hospital, Montpellier

Estudo piloto de pesquisa de etiologia por uma avaliação multidisciplinar e, em seguida, uma análise ampla do genoma em uma coorte de pacientes idiopáticos com baixa estatura

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.

Visão geral do estudo

Status

Recrutamento

Condições

Intervenção / Tratamento

Descrição detalhada

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.

Tipo de estudo

Intervencional

Inscrição (Estimado)

200

Estágio

  • Não aplicável

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Contato de estudo

Locais de estudo

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

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

4 anos a 18 anos (Filho, Adulto)

Aceita Voluntários Saudáveis

Não

Gêneros Elegíveis para o Estudo

Tudo

Descrição

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

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

  • Finalidade Principal: Diagnóstico
  • Alocação: N / D
  • Modelo Intervencional: Atribuição de grupo único
  • Mascaramento: Nenhum (rótulo aberto)

Armas e Intervenções

Grupo de Participantes / Braço
Intervenção / Tratamento
Experimental: 200 patients with idiopathic short stature,

200 patients with apparently idiopathic short stature,
Teste de diagnostico: 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
Procedimento: 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
Genético: 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.

O que o estudo está medindo?

Medidas de resultados primários

Medida de resultado
Descrição da medida
Prazo
proportion of patients with authentified idiopathic short stature after multidisciplinary clinical-radiological analysis
Prazo: 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

Medidas de resultados secundários

Medida de resultado
Descrição da medida
Prazo
Genome positivity rate
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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
Prazo: 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

Colaboradores e Investigadores

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

Patrocinador

University Hospital, Montpellier

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados ​​pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Real)

16 de março de 2026

Conclusão Primária (Estimado)

1 de março de 2029

Conclusão do estudo (Estimado)

1 de março de 2029

Datas de inscrição no estudo

Enviado pela primeira vez

7 de abril de 2023

Enviado pela primeira vez que atendeu aos critérios de CQ

4 de maio de 2023

Primeira postagem (Real)

15 de maio de 2023

Atualizações de registro de estudo

Última Atualização Postada (Real)

9 de novembro de 2026

Última atualização enviada que atendeu aos critérios de controle de qualidade

4 de novembro de 2026

Última verificação

1 de novembro de 2026

Mais Informações

Termos relacionados a este estudo

Palavras-chave

Termos MeSH relevantes adicionais

Outros números de identificação do estudo

  • RECHMPL22_0396

Informações sobre medicamentos e dispositivos, documentos de estudo

Estuda um medicamento regulamentado pela FDA dos EUA

Não

Estuda um produto de dispositivo regulamentado pela FDA dos EUA

Não

Essas informações foram obtidas diretamente do site clinicaltrials.gov sem nenhuma alteração. Se você tiver alguma solicitação para alterar, remover ou atualizar os detalhes do seu estudo, entre em contato com register@clinicaltrials.gov. Assim que uma alteração for implementada em clinicaltrials.gov, ela também será atualizada automaticamente em nosso site .

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