Neuronal Ceroid Lipofuscinosis Treated with Haploidentical Hematopoietic Stem Cell Transplantation Combined with Post-Transplant Cyclophosphamide

Background: Neuronal ceroid lipofuscinoses (NCLs) are rare lysosomal storage disorders, characterized by progressive mental retardation and motor developmental regression, and myoclonic seizures. Hematopoietic stem cell transplantation (HSCT) has been suggested to be used in the treatment of lysosomal disorders and brain damage caused by a deficiency of soluble lysosomal enzymes. However, there are no reports on treating NCLs with HSCT in China.Results: From January 2018 to May 2019, we performed haplo-HSCT followed by PT/Cy on 8 NCL pediatric patients. The median age was 4.5 years (range from 2.8 to 7 years). And the donors were their haploidentical HLA-matched parents, as no identically matched donor was found. The median nucleated cell count was 25.37 (10–34.41) ×108/kg and the median CD34+ count was 13.7(8.95–22)×106/kg. Neutrophil reconstitution occurred at 12 days (11–14 days) after transplantation, and median platelet reconstitution time was 12 days (9–14 days) after transplantation. All patients achieved full donor chimerism and did not develop Grade II–IV acute GvHD or chronic GvHD after transplantation. The median follow-up period was 2.2 (1.5–2.6) years. All patients are still alive at present, and develop no severe transplantation-related complications. The mental and motor disorders, myoclonic seizures, and vision loss of all patients continue to progress, but the progression slows down at 12 months after the transplantation. Conclusion: Observations reported in this study suggest it is safe and efficacy to treat NCLs with haplo-HSCT. Transplantation should be performed as early as possible for the survival quality of pediatric patients.