[Haploidentical allogenetic hematopoietic stem cell transplantation for X-linked adrenoleukodystrophy]

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• X-linked adrenoleukodystrophy (ALD) is a severe inherited neurological disorder with limited treatment options.
• Allogeneic hematopoietic stem cell transplantation (HSCT) is the only established therapy to halt ALD's neurological progression.
• Many ALD patients lack HLA-matched donors, necessitating alternative stem cell sources.

Purpose of the Study:

• To evaluate the outcomes of haploidentical allogeneic stem cell transplantation (HSCT) in children with ALD.
• To assess the safety and feasibility of using paternal stem cells for ALD treatment.

Main Methods:

• Eight children with ALD received haploidentical HSCT from their fathers between 2014-2018.
• A conditioning regimen included busulfan, cyclophosphamide, and fludarabine.
• Graft-versus-host disease (GVHD) prophylaxis involved anti-thymocyte globulin, cyclosporine A, mycophenolate mofetil, and methotrexate.

Main Results:

• All patients achieved complete donor chimerism post-transplant.
• Neutrophil and platelet engraftment occurred by median 11 and 10 days, respectively.
• Seven out of eight children survived with no major complications; one patient died from unrelated causes.

Conclusions:

• Haploidentical HSCT with the described regimen successfully induces full donor chimerism in ALD patients.
• This transplantation approach is demonstrated to be safe and feasible for treating X-linked adrenoleukodystrophy.