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.
Studieoversikt
Status
Forhold
Intervensjon / Behandling
Detaljert beskrivelse
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
Registrering (Antatt)
Kontakter og plasseringer
Studiekontakt
- Navn: Hélène Morel
- Telefonnummer: 33171196346
- E-post: helene.morel@aphp.fr
Studer Kontakt Backup
- Navn: Mathilde M.D. Grapin
- Telefonnummer: 0033142192726
- E-post: mathilde.grapin@aphp.fr
Studiesteder
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Bron, Frankrike, 69500
- Hôpital femme mère enfant, hospices civils de Lyon
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Ta kontakt med:
- Justine MD, PhD Bacchetta
- E-post: justine.bacchetta@univ-lyon1.fr
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Ta kontakt med:
- 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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Ta kontakt med:
- 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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Ta kontakt med:
- 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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Ta kontakt med:
- 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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Ta kontakt med:
- Mathilde M.D. Grapin
- Telefonnummer: 0033142192726
- E-post: mathilde.grapin@aphp.fr
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Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Prøvetakingsmetode
Studiepopulasjon
Beskrivelse
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
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
Intervensjon / 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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Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Occurrence of lymphoproliferative disorder
Tidsramme: 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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Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
Tidsramme: 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
Tidsramme: 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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Samarbeidspartnere og etterforskere
Samarbeidspartnere
Etterforskere
- Hovedetterforsker: Mathilde M.D. Grapin, Assistance Publique - Hôpitaux de Paris
Publikasjoner og nyttige lenker
Generelle publikasjoner
- 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.
Studierekorddatoer
Studer hoveddatoer
Studiestart (Antatt)
Primær fullføring (Antatt)
Studiet fullført (Antatt)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Ytterligere relevante MeSH-vilkår
- Urogenitale sykdommer
- Sykdommer i det endokrine systemet
- Urogenitale neoplasmer
- Neoplasmer etter nettsted
- Neoplasmer
- Mannlige urogenitale sykdommer
- Nyresykdommer
- Urologiske sykdommer
- Kvinnelige urogenitale sykdommer
- Kvinnelige urogenitale sykdommer og graviditetskomplikasjoner
- Genetiske sykdommer, medfødte
- Neoplasmer etter histologisk type
- Gonadal lidelser
- Urologiske neoplasmer
- Medfødte abnormiteter
- Nyre-neoplasmer
- Neoplastiske syndromer, arvelig
- Forstyrrelser i kjønnsutvikling
- Urogenitale abnormiteter
- Neoplasmer, komplekse og blandede
- Forstyrrelse av kjønnsutvikling, 46, XY
- Wilms Tumor
- Medfødte, arvelige og neonatale sykdommer og abnormiteter
- Denys-Drash syndrom
Andre studie-ID-numre
- APHP251805
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
Legemiddel- og utstyrsinformasjon, studiedokumenter
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