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.
Studieöversikt
Status
Betingelser
Intervention / Behandling
Detaljerad beskrivning
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.
Studietyp
Inskrivning (Beräknad)
Kontakter och platser
Studiekontakt
- Namn: Hélène Morel
- Telefonnummer: 33171196346
- E-post: helene.morel@aphp.fr
Studera Kontakt Backup
- Namn: Mathilde M.D. Grapin
- Telefonnummer: 0033142192726
- E-post: mathilde.grapin@aphp.fr
Studieorter
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-
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Bron, Frankrike, 69500
- Hôpital femme mère enfant, hospices civils de Lyon
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Kontakt:
- Justine MD, PhD Bacchetta
- E-post: justine.bacchetta@univ-lyon1.fr
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Kontakt:
- Anne-Laure M.D. Sellier
- E-post: anne-laure.sellier-leclerc@chu-lyon.fr
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Lille, Frankrike, 59000
- CHU de Lille
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Kontakt:
- Robert M.D. Novo
- E-post: robert.novo@chu-lille.fr
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Montpellier, Frankrike, 34000
- CHU Montpellier
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Nancy, Frankrike, 54500
- CHU de Nancy - Hôpitaux de Brabois
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Nantes, Frankrike, 44093
- Hôpital enfants et adolescents, CHU Nantes
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Kontakt:
- Gwenaelle M.D. Roussey
- E-post: gwenaelle.roussey@chu-nantes.fr
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Paris, Frankrike, 75019
- Hopital Robert Debre
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Kontakt:
- Julien MD, PhD Hogan
- E-post: julien.hogan@aphp.fr
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Paris, Frankrike, 75015
- Hôpital Necker-Enfants Malades
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Kontakt:
- Mathilde M.D. Grapin
- Telefonnummer: 0033142192726
- E-post: mathilde.grapin@aphp.fr
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Deltagandekriterier
Urvalskriterier
Åldrar som är berättigade till studier
- Barn
- Vuxen
- Äldre vuxen
Tar emot friska volontärer
Testmetod
Studera befolkning
Beskrivning
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
Studieplan
Hur är studien utformad?
Designdetaljer
Kohorter och interventioner
Grupp / Kohort |
Intervention / Behandling |
|---|---|
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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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Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Occurrence of lymphoproliferative disorder
Tidsram: 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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Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
Tidsram: 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
Tidsram: 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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Samarbetspartners och utredare
Samarbetspartners
Utredare
- Huvudutredare: Mathilde M.D. Grapin, Assistance Publique - Hôpitaux de Paris
Publikationer och användbara länkar
Allmänna publikationer
- 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.
Studieavstämningsdatum
Studera stora datum
Studiestart (Beräknad)
Primärt slutförande (Beräknad)
Avslutad studie (Beräknad)
Studieregistreringsdatum
Först inskickad
Först inskickad som uppfyllde QC-kriterierna
Första postat (Faktisk)
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
Senast verifierad
Mer information
Termer relaterade till denna studie
Ytterligare relevanta MeSH-villkor
- Urogenitala sjukdomar
- Sjukdomar i det endokrina systemet
- Urogenitala neoplasmer
- Neoplasmer efter plats
- Neoplasmer
- Manliga urogenitala sjukdomar
- Njursjukdomar
- Urologiska sjukdomar
- Kvinnliga urogenitala sjukdomar
- Kvinnliga urogenitala sjukdomar och graviditetskomplikationer
- Genetiska sjukdomar, medfödda
- Neoplasmer efter histologisk typ
- Gonadal sjukdomar
- Urologiska neoplasmer
- Medfödda abnormiteter
- Neoplasmer i njurarna
- Neoplastiska syndrom, ärftligt
- Störningar i sexuell utveckling
- Urogenitala abnormiteter
- Neoplasmer, komplexa och blandade
- Disorder of Sex Development, 46,XY
- Wilms tumör
- Medfödda, ärftliga och neonatala sjukdomar och abnormiteter
- Denys-Drash syndrom
Andra studie-ID-nummer
- APHP251805
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