Low dose treosulfan treatment for Nijmegen Breakage Syndrome

Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophosphamide for Children Nijmegen Breakage Syndrome

Phase 2 Interventional Federal Research Institute of Pediatric Hematology, Oncology and Immunology · NCT06198842

This study is testing a gentler treatment plan using low dose treosulfan for patients with Nijmegen Breakage Syndrome who are getting a stem cell transplant to see if it helps them have better outcomes with fewer side effects.

Quick facts

PhasePhase 2
Study typeInterventional
Enrollment10 (estimated)
Ages3 Months to 21 Years
SexAll
SponsorFederal Research Institute of Pediatric Hematology, Oncology and Immunology Academic / other
Drugs / interventionscyclophosphamide, rituximab, fludarabine
Locations1 site (Moscow)
Trial IDNCT06198842 on ClinicalTrials.gov

What this trial studies

This study evaluates the safety and efficacy of a low dose treosulfan-based conditioning regimen combined with post-transplant cyclophosphamide in patients with Nijmegen Breakage Syndrome (NBS) undergoing hematopoietic stem cell transplantation (HSCT). NBS is a DNA repair disorder, and standard conditioning regimens can lead to high morbidity and mortality. The study aims to use a specific combination of treosulfan, fludarabine, thymoglobulin, and rituximab to minimize toxicity while assessing event-free survival as the primary endpoint. The goal is to improve outcomes for patients with this rare condition.

Who should consider this trial

Good fit: Ideal candidates are patients aged 3 months to 21 years diagnosed with Nijmegen Breakage Syndrome who are eligible for allogeneic HSCT.

Not a fit: Patients outside the specified age range or those not diagnosed with Nijmegen Breakage Syndrome may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could provide a safer and more effective treatment option for patients with Nijmegen Breakage Syndrome undergoing HSCT.

How similar studies have performed: While data on treosulfan usage in NBS are sparse, similar approaches in other DNA repair disorders have shown promise, indicating potential for success.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

1. Patients aged ≥ 3 months and \< 21 years
2. Patients diagnosed with NBS eligible for an allogeneic HSCT
3. Signed written informed consent signed by a parent or legal guardian

Where this trial is running

Moscow

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Nijmegen Breakage Syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.