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.
Studie Overzicht
Toestand
Conditie
Interventie / Behandeling
Gedetailleerde beschrijving
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.
Studietype
Inschrijving (Geschat)
Contacten en locaties
Studiecontact
- Naam: Hélène Morel
- Telefoonnummer: 33171196346
- E-mail: helene.morel@aphp.fr
Studie Contact Back-up
- Naam: Mathilde M.D. Grapin
- Telefoonnummer: 0033142192726
- E-mail: mathilde.grapin@aphp.fr
Studie Locaties
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Bron, Frankrijk, 69500
- Hôpital femme mère enfant, hospices civils de Lyon
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Contact:
- Justine MD, PhD Bacchetta
- E-mail: justine.bacchetta@univ-lyon1.fr
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Contact:
- Anne-Laure M.D. Sellier
- E-mail: anne-laure.sellier-leclerc@chu-lyon.fr
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Lille, Frankrijk, 59000
- CHU de Lille
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Contact:
- Robert M.D. Novo
- E-mail: robert.novo@chu-lille.fr
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Montpellier, Frankrijk, 34000
- CHU Montpellier
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Nancy, Frankrijk, 54500
- CHU de Nancy - Hôpitaux de Brabois
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Nantes, Frankrijk, 44093
- Hôpital enfants et adolescents, CHU Nantes
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Contact:
- Gwenaelle M.D. Roussey
- E-mail: gwenaelle.roussey@chu-nantes.fr
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Paris, Frankrijk, 75019
- Hopital Robert Debre
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Contact:
- Julien MD, PhD Hogan
- E-mail: julien.hogan@aphp.fr
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Paris, Frankrijk, 75015
- Hôpital Necker-Enfants Malades
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Contact:
- Mathilde M.D. Grapin
- Telefoonnummer: 0033142192726
- E-mail: mathilde.grapin@aphp.fr
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Deelname Criteria
Geschiktheidscriteria
Leeftijden die in aanmerking komen voor studie
- Kind
- Volwassen
- Oudere volwassene
Accepteert gezonde vrijwilligers
Bemonsteringsmethode
Studie Bevolking
Beschrijving
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
Studie plan
Hoe is de studie opgezet?
Ontwerpdetails
Cohorten en interventies
Groep / Cohort |
Interventie / Behandeling |
|---|---|
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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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Wat meet het onderzoek?
Primaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
|---|---|---|
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Occurrence of lymphoproliferative disorder
Tijdsspanne: 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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Secundaire uitkomstmaten
Uitkomstmaat |
Maatregel Beschrijving |
Tijdsspanne |
|---|---|---|
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Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
Tijdsspanne: 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
Tijdsspanne: 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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Medewerkers en onderzoekers
Medewerkers
Onderzoekers
- Hoofdonderzoeker: Mathilde M.D. Grapin, Assistance Publique - Hôpitaux de Paris
Publicaties en nuttige links
Algemene publicaties
- 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.
Studie record data
Bestudeer belangrijke data
Studie start (Geschat)
Primaire voltooiing (Geschat)
Studie voltooiing (Geschat)
Studieregistratiedata
Eerst ingediend
Eerst ingediend dat voldeed aan de QC-criteria
Eerst geplaatst (Werkelijk)
Updates van studierecords
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Laatste update ingediend die voldeed aan QC-criteria
Laatst geverifieerd
Meer informatie
Termen gerelateerd aan deze studie
Trefwoorden
Aanvullende relevante MeSH-voorwaarden
- Urogenitale ziekten
- Endocriene systeemziekten
- Urogenitale neoplasmata
- Neoplasmata per site
- Neoplasmata
- Mannelijke urogenitale ziekten
- Nier Ziekten
- Urologische ziekten
- Vrouwelijke urogenitale ziekten
- Vrouwelijke urogenitale ziekten en zwangerschapscomplicaties
- Genetische ziekten, aangeboren
- Neoplasmata per histologisch type
- Gonadale aandoeningen
- Urologische neoplasmata
- Aangeboren afwijkingen
- Nierneoplasmata
- Neoplastische syndromen, erfelijk
- Stoornissen van seksuele ontwikkeling
- Urogenitale afwijkingen
- Neoplasmata, complex en gemengd
- Stoornis van seksuele ontwikkeling, 46,XY
- Wilms-tumor
- Aangeboren, erfelijke en neonatale ziekten en afwijkingen
- Denys-Drash-syndroom
Andere studie-ID-nummers
- APHP251805
Plan Individuele Deelnemersgegevens (IPD)
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