Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder (DRASH-PTLD)
Post-transplant Lymphoproliferative Disorder Following Kidney Transplantation in Denys-Drash Syndrome: a Case-control Study
Denys-Drash syndrome is a rare genetic disorder of childhood characterized by nephrotic syndrome, nephroblastomas, and genital developmental abnormalities. These children present with rapidly progressive renal failure, leading to kidney transplantation at a median age of 3.6 years. In a study of the French cohort of patients with Denys-Drash syndrome, a high risk of lymphoproliferative syndrome was observed (20%). This frequency is significantly higher than in the general transplant population (4%).
The aim of the study is to evaluate the risk of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients with kidney transplant patients without Denys-Drash syndrome.
Visão geral do estudo
Status
Condições
Intervenção / Tratamento
Descrição detalhada
Denys-Drash syndrome is a rare genetic disorder of childhood characterized by nephrotic syndrome, nephroblastomas, and genital developmental abnormalities. These children present with rapidly progressive renal failure, leading to kidney transplantation at a median age of 3.6 years. In a study of the French cohort of patients with Denys-Drash syndrome, a high risk of lymphoproliferative syndrome was observed (20%). This frequency is significantly higher than in the general transplant population (4%).
The aim of the study is to evaluate the risk of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients with kidney transplant patients without Denys-Drash syndrome.
The study hypothesizes that there is an increased risk of lymphoproliferative disorder in children with Denys-Drash syndrome. If this hypothesis is confirmed, it would allow for the development of active treatment methods to combat post-transplant lymphoproliferative disorder in this population.
Tipo de estudo
Inscrição (Estimado)
Contactos e Locais
Contato de estudo
- Nome: Hélène Morel
- Número de telefone: 33171196346
- E-mail: helene.morel@aphp.fr
Estude backup de contato
- Nome: Mathilde M.D. Grapin
- Número de telefone: 0033142192726
- E-mail: mathilde.grapin@aphp.fr
Locais de estudo
-
-
-
Bron, França, 69500
- Hôpital femme mère enfant, hospices civils de Lyon
-
Contato:
- Justine MD, PhD Bacchetta
- E-mail: justine.bacchetta@univ-lyon1.fr
-
Contato:
- Anne-Laure M.D. Sellier
- E-mail: anne-laure.sellier-leclerc@chu-lyon.fr
-
Lille, França, 59000
- CHU de Lille
-
Contato:
- Robert M.D. Novo
- E-mail: robert.novo@chu-lille.fr
-
Montpellier, França, 34000
- CHU Montpellier
-
Nancy, França, 54500
- CHU de Nancy - Hôpitaux de Brabois
-
Nantes, França, 44093
- Hôpital enfants et adolescents, CHU Nantes
-
Contato:
- Gwenaelle M.D. Roussey
- E-mail: gwenaelle.roussey@chu-nantes.fr
-
Paris, França, 75019
- Hopital Robert Debre
-
Contato:
- Julien MD, PhD Hogan
- E-mail: julien.hogan@aphp.fr
-
Paris, França, 75015
- Hôpital Necker-Enfants Malades
-
Contato:
- Mathilde M.D. Grapin
- Número de telefone: 0033142192726
- E-mail: mathilde.grapin@aphp.fr
-
-
Critérios de participação
Critérios de elegibilidade
Idades elegíveis para estudo
- Filho
- Adulto
- Adulto mais velho
Aceita Voluntários Saudáveis
Método de amostragem
População do estudo
Descrição
Inclusion Criteria:
- Patient must be a minor at the time of kidney transplantation
- Diagnosis of Denys-Drash syndrome (WT1 pathogenic variants in exons 8 or 9) for cases
- Controls: minor patient, kidney transplanted at the same center as the case, immediately before and immediately after the case
- Kidney transplant recipient on immunosuppressants
- Hospital follow-up in a participating center in France
- Regardless of their Epstein-Barr virus status before transplantation
- Between 2000 and 2022
- Holders of parental authority or adult patients informed of the study and not objecting to the processing of medical data for the study
Exclusion Criteria:
- History of lymphoproliferative disorder prior to transplantation
- Other hematopoietic cancer
- Other genetic disease with a proven increased risk of lymphoproliferative disorder
Plano de estudo
Como o estudo é projetado?
Detalhes do projeto
Coortes e Intervenções
Grupo / Coorte |
Intervenção / Tratamento |
|---|---|
|
Patients with Denys-Drash syndrome
Patients who were minors at the time of kidney transplantation between 2000 and 2022.
|
Collection of data from the patient's medical file.
The data will be collected until 2024.
|
|
Control patients
The controls will be matched in chronological order of transplantation with patients with Denys-Drash syndrome: a control before and a control after, matched according to the Epstein-Barr virus status of the pretransplant recipient, the Epstein-Barr virus status of the donor and the age of transplantation.
|
Collection of data from the patient's medical file.
The data will be collected until 2024.
|
O que o estudo está medindo?
Medidas de resultados primários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Occurrence of lymphoproliferative disorder
Prazo: Up to 24 years
|
Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site.
|
Up to 24 years
|
Medidas de resultados secundários
Medida de resultado |
Descrição da medida |
Prazo |
|---|---|---|
|
Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
Prazo: Up to 24 years
|
Investigate risk factors for post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys Drash syndrome. Description of the following factors: increase or secondary positivity of Epstein-Barr virus PCR, donor and recipient Epstein-Barr virus serology before transplantation, patient age at the time of transplantation. |
Up to 24 years
|
|
Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation
Prazo: Up to 24 years
|
Time to onset of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients without this syndrome.
|
Up to 24 years
|
Colaboradores e Investigadores
Patrocinador
Colaboradores
Investigadores
- Investigador principal: Mathilde M.D. Grapin, Assistance Publique - Hôpitaux de Paris
Publicações e links úteis
Publicações Gerais
- Glenisson M, Grapin M, Blanc T, Preka E, Hogan J, Aurelle M, Roussey G, Mouche A, Rousset-Rouviere C, Novo R, Faudeux C, Fila M, Vrillon I, Cloarec S, Simon T, Harambat J, Casado EM, Rod J, Lecoindre MC, Heidet L, Boyer O, Garcelon N, Kachmar J, Dorval G, Sarnacki S. Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children. Kidney Int Rep. 2025 Jan 16;10(4):1205-1212. doi: 10.1016/j.ekir.2025.01.014. eCollection 2025 Apr.
- Lopez-Gonzalez M, Ariceta G. WT1-related disorders: more than Denys-Drash syndrome. Pediatr Nephrol. 2024 Sep;39(9):2601-2609. doi: 10.1007/s00467-024-06302-y. Epub 2024 Feb 7.
- Fulchiero R, Amaral S. Post-transplant lymphoproliferative disease after pediatric kidney transplant. Front Pediatr. 2022 Dec 7;10:1087864. doi: 10.3389/fped.2022.1087864. eCollection 2022.
- Mynarek M, Hussein K, Kreipe HH, Maecker-Kolhoff B. Malignancies after pediatric kidney transplantation: more than PTLD? Pediatr Nephrol. 2014 Sep;29(9):1517-28. doi: 10.1007/s00467-013-2622-5. Epub 2013 Sep 24.
Datas de registro do estudo
Datas Principais do Estudo
Início do estudo (Estimado)
Conclusão Primária (Estimado)
Conclusão do estudo (Estimado)
Datas de inscrição no estudo
Enviado pela primeira vez
Enviado pela primeira vez que atendeu aos critérios de CQ
Primeira postagem (Real)
Atualizações de registro de estudo
Última Atualização Postada (Real)
Última atualização enviada que atendeu aos critérios de controle de qualidade
Última verificação
Mais Informações
Termos relacionados a este estudo
Termos MeSH relevantes adicionais
- Doenças urogenitais
- Doenças do Sistema Endócrino
- Neoplasias urogenitais
- Neoplasias por local
- Neoplasias
- Doenças Urogenitais Masculinas
- Doenças renais
- Doenças Urológicas
- Doenças Urogenitais Femininas
- Doenças urogenitais femininas e complicações na gravidez
- Doenças Genéticas, Congênitas
- Neoplasias por Tipo Histológico
- Distúrbios Gonadais
- Neoplasias Urológicas
- Anomalias congénitas
- Neoplasias Renais
- Síndromes Neoplásicas Hereditárias
- Distúrbios do Desenvolvimento Sexual
- Anormalidades urogenitais
- Neoplasias Complexas e Mistas
- Transtorno do Desenvolvimento Sexual, 46,XY
- Tumor de Wilms
- Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
- Síndrome Denys-Drash
Outros números de identificação do estudo
- APHP251805
Plano para dados de participantes individuais (IPD)
Planeja compartilhar dados de participantes individuais (IPD)?
Informações sobre medicamentos e dispositivos, documentos de estudo
Estuda um medicamento regulamentado pela FDA dos EUA
Estuda um produto de dispositivo regulamentado pela FDA dos EUA
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 .