Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder

NCT07605884 | Not Yet Recruiting

• 1 other identifier: APHP251805
• Study Type: observational
• Target: 108
• Locations: 1 country
• Sites: 7

Brief Summary

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.

Conditions

Denys-Drash Syndrome

Keywords

Denys-Drash syndrome; Post-transplant lymphoproliferative disorder; Kidney transplantation

Outcome Measures

Primary Outcomes (1)

• Occurrence of lymphoproliferative disorder

  Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site.

  Up to 24 years

Secondary Outcomes (2)

• Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation

  Up to 24 years

• Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation

  Up to 24 years

Study Arms (2)

Patients with Denys-Drash syndrome

Patients who were minors at the time of kidney transplantation between 2000 and 2022.

Other: Collection of data from the patient's medical file

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.

Other: Collection of data from the patient's medical file

Interventions

Collection of data from the patient's medical file OTHER

Collection of data from the patient's medical file. The data will be collected until 2024.

Control patients; Patients with Denys-Drash syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

In the French cohort of patients followed for Denys Drash, between 2000 and 2022, 36 patients underwent kidney transplants.

You may qualify if:

• 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

You may not qualify if:

• History of lymphoproliferative disorder prior to transplantation
• Other hematopoietic cancer
• Other genetic disease with a proven increased risk of lymphoproliferative disorder

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (7)

Hôpital Femme Mère Enfant, Hospices Civils de Lyon

Bron, 69500, France

Location

CHU de Lille

Lille, 59000, France

Location

CHU Montpellier

Montpellier, 34000, France

Location

CHU de Nancy - Hôpitaux de Brabois

Nancy, 54500, France

Location

Hôpital enfants et adolescents, CHU Nantes

Nantes, 44093, France

Location

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

Hôpital Robert Debré

Paris, 75019, France

Location

Related Publications (4)

• 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.

  PMID: 40303223 BACKGROUND

• 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.

  PMID: 38326647 BACKGROUND

• 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.

  PMID: 36568415 BACKGROUND

• 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.

  PMID: 24061645 BACKGROUND

MeSH Terms

Conditions

Denys-Drash Syndrome

Condition Hierarchy (Ancestors)

Wilms Tumor; Neoplasms, Complex and Mixed; Neoplasms by Histologic Type; Neoplasms; Kidney Neoplasms; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Neoplastic Syndromes, Hereditary; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Kidney Diseases; Urologic Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Mathilde M.D. Grapin

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mathilde M.D. Grapin

CONTACT

0033142192726; mathilde.grapin@aphp.fr

Hélène Morel

CONTACT

33171196346; helene.morel@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 20, 2026
• First Posted: May 26, 2026
• Study Start: June 1, 2026
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: May 26, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (7)