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.
연구 개요
상태
상태
정황
정황
개입 / 치료
개입 / 치료
상세 설명
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.
연구 유형
연구 유형
등록 (추정된)
등록
연락처 및 위치
연구 연락처
연구 연락처
- 이름: Hélène Morel
- 전화번호: 33171196346
- 이메일: helene.morel@aphp.fr
연구 연락처 백업
- 이름: Mathilde M.D. Grapin
- 전화번호: 0033142192726
- 이메일: mathilde.grapin@aphp.fr
연구 장소
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Bron, 프랑스, 69500
- Hôpital femme mère enfant, hospices civils de Lyon
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연락하다:
- Justine MD, PhD Bacchetta
- 이메일: justine.bacchetta@univ-lyon1.fr
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연락하다:
- Anne-Laure M.D. Sellier
- 이메일: anne-laure.sellier-leclerc@chu-lyon.fr
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Lille, 프랑스, 59000
- CHU de Lille
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연락하다:
- Robert M.D. Novo
- 이메일: robert.novo@chu-lille.fr
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Montpellier, 프랑스, 34000
- CHU Montpellier
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Nancy, 프랑스, 54500
- CHU de Nancy - Hôpitaux de Brabois
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Nantes, 프랑스, 44093
- Hôpital enfants et adolescents, CHU Nantes
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연락하다:
- Gwenaelle M.D. Roussey
- 이메일: gwenaelle.roussey@chu-nantes.fr
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Paris, 프랑스, 75019
- Hopital Robert Debre
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연락하다:
- Julien MD, PhD Hogan
- 이메일: julien.hogan@aphp.fr
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Paris, 프랑스, 75015
- Hôpital Necker-Enfants Malades
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연락하다:
- Mathilde M.D. Grapin
- 전화번호: 0033142192726
- 이메일: mathilde.grapin@aphp.fr
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참여기준
자격 기준
자격 기준
공부할 수 있는 나이
- 어린이
- 성인
- 고령자
건강한 자원 봉사자를 받아들입니다
샘플링 방법
연구 인구
설명
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
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
그룹/코호트 수
코호트 및 개입
그룹/코호트그룹/코호트 |
개입 / 치료개입 / 치료 |
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Patients with Denys-Drash syndrome
Patients who were minors at the time of kidney transplantation between 2000 and 2022.
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Collection of data from the patient's medical file.
The data will be collected until 2024.
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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.
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Collection of data from the patient's medical file.
The data will be collected until 2024.
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연구는 무엇을 측정합니까?
주요 결과 측정
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Occurrence of lymphoproliferative disorder
기간: Up to 24 years
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Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site.
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Up to 24 years
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2차 결과 측정
2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
기간: Up to 24 years
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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
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Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation
기간: Up to 24 years
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Time to onset of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients without this syndrome.
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Up to 24 years
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공동 작업자 및 조사자
협력자
협력자
수사관
수사관
- 수석 연구원: Mathilde M.D. Grapin, Assistance Publique - Hôpitaux de Paris
간행물 및 유용한 링크
일반 간행물
- 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.
연구 기록 날짜
연구 주요 날짜
연구 시작 (추정된)
연구 시작
기본 완료 (추정된)
기본 완료
연구 완료 (추정된)
연구 완료
연구 등록 날짜
최초 제출
최초 제출
QC 기준을 충족하는 최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
처음 게시됨
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
마지막 업데이트 게시됨
QC 기준을 충족하는 마지막 업데이트 제출
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
추가 관련 MeSH 약관
기타 연구 ID 번호
기타 연구 ID 번호
- APHP251805
개별 참가자 데이터(IPD) 계획
개별 참가자 데이터(IPD)를 공유할 계획입니까?
약물 및 장치 정보, 연구 문서
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미국 FDA 규제 기기 제품 연구
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