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Study of Treosulfan-Based Conditioning for HSCT in Nijmegen Breakage Syndrome

NCT07316595 · Status: NOT_YET_RECRUITING · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 24

Last updated 2026-01-05

No results posted yet for this study

Summary

Nijmegen breakage syndrome is one of the DNA repair defect disorders. A characteristic feature of these syndromes is a predisposition to the development of malignant neoplasms. The only curative option for the combined immunodeficiency in Nijmegen breakage syndrome is allogeneic hematopoietic stem cell transplantation (HSCT). In addition to correcting the immunodeficiency, HSCT can reduce the risk of developing hematopoietic tumors.

Due to the increased sensitivity of cells in patients with Nijmegen breakage syndrome to alkylating drugs, the use of standard myeloablative conditioning regimens for this disease significantly increases the risks of toxic complications and transplant-related mortality.

Treosulfan is an alkylating agent that has demonstrated efficacy with comparatively low risks of toxic complications when used as part of conditioning prior to allogeneic HSCT for various diseases in patients of all age groups. There is currently experience using treosulfan in patients with Nijmegen breakage syndrome at reduced doses (21 and 30 g/m²). However, a number of questions remain unresolved. Based on our previous experience, a dose of 21 g/m² is sufficient for patients with Nijmegen breakage syndrome without a malignant disease, as it ensures good graft function (a high probability of full donor chimerism and control of the immunodeficiency). At the same time, there is reason to believe that this dose is insufficient to provide an antitumor effect from the conditioning.

We are planning a multicenter study to investigate treosulfan-based conditioning in patients with Nijmegen breakage syndrome, which will stratify patients based on the presence or absence of malignant disease. Patients without a tumor will receive treosulfan at a dose of 21 g/m², and patients with a tumor will receive 30 g/m².

Conditions

  • HSCT
  • Nijmegen Breakage Syndrome
  • Treosulfan Based Conditioning

Interventions

DRUG

Treosulfan (Treo)

We are planning a multicenter study to investigate treosulfan-based conditioning in patients with Nijmegen breakage syndrome, which will stratify patients based on the presence or absence of malignant disease. Patients without a tumor will receive treosulfan at a dose of 21 g/m², and patients with a tumor will receive 30 g/m²

Sponsors & Collaborators

  • Russian Children's Clinical Hospital of the N.I. Pirogov Russian National Research Medical University

    collaborator UNKNOWN

  • Regional Children's Clinical Hospital, Yekaterinburg

    collaborator UNKNOWN

  • Morozov Children's Municipal Clinical Hospital of the Moscow City Health Department State-Financed H

    collaborator OTHER_GOV

  • Raisa Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation

    collaborator UNKNOWN

  • Federal Research Institute of Pediatric Hematology, Oncology and Immunology

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
PARALLEL

Eligibility

Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-12-30
Primary Completion
2028-12-31
Completion
2030-12-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07316595 on ClinicalTrials.gov