Low Dose Treosulfan Based Conditioning Regimen in HSCT for Nijmegen Breakage Syndrome

  • End date
    May 25, 2023
  • participants needed
  • sponsor
    Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Updated on 25 January 2021


The aim of the current study is to evaluate the safety and efficacy of low dose treosulfan based conditioning regimen in HSCT in Nijmegen breakage syndrome


Nijmegen breakage syndrome (NBS) is a DNA repair disorder. The only curative option for combine immunodeficiency in NBS is allogeneic hematopoietic stem cell transplantation (HSCT). Standard myeloablative conditioning regimens in DNA repair disorders lead to increased morbidity and mortality after HSCT. Low doses of alkylators are used to reduce toxicity rates, which, however, increase the risks of mixed chimerism and graft failure. The data of treosulfan usage in NBS are sparse. To evaluate the safety and efficacy of low dose treosulfan based conditioning regimen in NBS, treosulfan 21g/m2 in combination with fludarabine 150mg/mg, cyclophosphamide 40mg/kg, thymoglobulin (Genzyme) 5mg/kg and rituximab 100mg/m2 will be used from day -6 to -1 day, followed by stem cell infusion. The primary endpoint is event-free survival, where graft failure, death, and malignancies are considered as events.

Condition Nijmegen Breakage Syndrome
Treatment treosulfan
Clinical Study IdentifierNCT04400045
SponsorFederal Research Institute of Pediatric Hematology, Oncology and Immunology
Last Modified on25 January 2021


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Inclusion Criteria

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