Denys-Drash SyndromeDRASH-PTLDNCT07605884
Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder
An observational study of Denys-Drash Syndrome, run by Assistance Publique - Hôpitaux de Paris at 7 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Denys-Drash Syndrome
- What is being tested?
- Collection of data from the patient's medical file
- How many people
- 108 participants
- Where
- 7 sitesFrance
- Study dates
- Jun 2026to Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: In the French cohort of patients followed for Denys Drash, between 2000 and 2022, 36 patients underwent kidney transplants.
Who may be able to join
- 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
Who cannot join
- History of lymphoproliferative disorder prior to transplantation
- Other hematopoietic cancer
- Other genetic disease with a proven increased risk of lymphoproliferative disorder
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
France7 sites
Hôpital Femme Mère Enfant, Hospices Civils de Lyon
Bron, 69500
Justine MD, PhD Bacchetta, justine.bacchetta@univ-lyon1.fr
Anne-Laure M.D. Sellier, anne-laure.sellier-leclerc@chu-lyon.fr
CHU de Lille
Lille, 59000
Robert M.D. Novo, robert.novo@chu-lille.fr
CHU Montpellier
Montpellier, 34000
CHU de Nancy - Hôpitaux de Brabois
Nancy, 54500
Hôpital enfants et adolescents, CHU Nantes
Nantes, 44093
Gwenaelle M.D. Roussey, gwenaelle.roussey@chu-nantes.fr
Hôpital Necker-Enfants Malades
Paris, 75015
Mathilde M.D. Grapin, 0033142192726, mathilde.grapin@aphp.fr
Hôpital Robert Debré
Paris, 75019
Julien MD, PhD Hogan, julien.hogan@aphp.fr
About this study
Official title: 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.
Read the detailed description
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.
- Conditions
- Denys-Drash Syndrome
- Being tested
- Collection of data from the patient's medical file
- Keywords
- Denys-Drash syndrome, Post-transplant lymphoproliferative disorder, Kidney transplantation
- Medical subject headings
- Denys-Drash Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of data from the patient's medical fileOther
Collection of data from the patient's medical file. The data will be collected until 2024.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Denys-Drash syndrome | Patients who were minors at the time of kidney transplantation between 2000 and 2022. Receives: 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. Receives: Other: Collection of data from the patient's medical file |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence of lymphoproliferative disorder
Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site.
Measured: Up to 24 years
Secondary outcomes (2)
Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
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.
Measured: Up to 24 years
Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation
Time to onset of post-transplant lymphoproliferative disorder following kidney transplantation in patients with Denys-Drash syndrome compared to patients without this syndrome.
Measured: Up to 24 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2026
- Study startJun 2026 (estimated)
- Primary completionJun 2027 (estimated)
- Study completionJun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Denys-Drash SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 108 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Mathilde M.D. Grapin, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07605884
- Sponsor's protocol ID
- APHP251805
- Acronym
- DRASH-PTLD
- Status last verified
- Apr 2026
- First submitted
- 20 Apr 2026
- Last updated
- 26 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 40303223Lopez-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.
PubMed 38326647Fulchiero 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.
PubMed 36568415Mynarek 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.
PubMed 24061645
Study at a glance
From the registry record, last updated by the sponsor on 26 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Post-transplant Lymphoproliferative Disorder Following Kidney Transplantation in Denys-Drash Syndrome: a Case-control Study
- ClinicalTrials.gov ID
- NCT07605884
- Acronym / sponsor ID
- DRASH-PTLD / APHP251805
- Conditions
- Denys-Drash Syndrome
- Keywords
- Denys-Drash syndrome, Post-transplant lymphoproliferative disorder, Kidney transplantation
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 108 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- Jun 2026 (estimated)
- Primary completion
- Jun 2027 (estimated)
- Study completion
- Jun 2027 (estimated)
- First posted
- 26 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Denys-Drash syndrome | – | Other: Collection of data from the patient's medical filePatients who were minors at the time of kidney transplantation between 2000 and 2022. |
| Control patients | – | Other: Collection of data from the patient's medical fileThe 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- In the French cohort of patients followed for Denys Drash, between 2000 and 2022, 36 patients underwent kidney transplants.
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (3 listed)
- History of lymphoproliferative disorder prior to transplantation
- Other hematopoietic cancer
- Other genetic disease with a proven increased risk of lymphoproliferative disorder
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of data from the patient's medical fileCollection of data from the patient's medical file. The data will be collected until 2024. | Other | Control patients, Patients with Denys-Drash syndrome |
Primary outcome
Occurrence of lymphoproliferative disorder
Time frame: Up to 24 years
Occurrence of lymphoproliferative disorder, confirmed by anatomopathological analyses of lymph node biopsies or of another affected site.
2 secondary outcomes
Description of risk factors of post-transplant lymphoproliferative disorder following kidney transplantation
Time frame: Up to 24 years
Comparison of the time to onset of post-transplant lymphoproliferative disorder following kidney transplantation
Time frame: Up to 24 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 May 2026.
- Background: PubMed 40303223Glenisson 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.
- Background: PubMed 38326647Lopez-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.
- Background: PubMed 36568415Fulchiero 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.
- Background: PubMed 24061645Mynarek 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.
- Individual participant dataSharing planned: No
Related trials for Denys-Drash Syndrome
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
National Registry of Rare Kidney Diseases
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mathilde M.D. Grapin principal investigator
Assistance Publique - Hôpitaux de Paris
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Denys-Drash Syndrome, run by Assistance Publique - Hôpitaux de Paris at 7 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 26 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mathilde M.D. Grapin (0033142192726, mathilde.grapin@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Occurrence of lymphoproliferative disorder (time frame: Up to 24 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07605884, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 May 2026.