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

NCT ID: NCT07316595

Last Updated: 2026-01-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Clinical Phase

PHASE2

Total Enrollment

24 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-12-30

Study Completion Date

2030-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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HSCT Nijmegen Breakage Syndrome Treosulfan Based Conditioning

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

We are planning a 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.
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Patients with Nijmegen breakage syndrome and malignant disease.

Group Type ACTIVE_COMPARATOR

Treosulfan (Treo)

Intervention Type DRUG

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

Patients with Nijmegen breakage syndrome without malignant disease.

Group Type ACTIVE_COMPARATOR

Treosulfan (Treo)

Intervention Type DRUG

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

Interventions

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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

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

* genetically confirmed Nijmegen breakage syndrome
* availability of informed consent for study participation, signed by the patient (ages 14 to 21) and/or their legal representative (ages 0 to 18).
* absence of contraindications to HSCT based on the patient's somatic status.

Exclusion Criteria

* other DNA repair deficiency syndromes (both specified and unspecified)
Maximum Eligible Age

21 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

UNKNOWN

Sponsor Role collaborator

Regional Children's Clinical Hospital, Yekaterinburg

UNKNOWN

Sponsor Role collaborator

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

OTHER_GOV

Sponsor Role collaborator

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

UNKNOWN

Sponsor Role collaborator

Federal Research Institute of Pediatric Hematology, Oncology and Immunology

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Central Contacts

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Dmitry Balashov, MD, PhD

Role: CONTACT

+7-926-579-78-17

Alexandra Laberko, MD, PhD

Role: CONTACT

+7-903-299-49-58

Other Identifiers

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NCHPOI- 2025-9

Identifier Type: -

Identifier Source: org_study_id

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