This study aims to evaluate the safety, feasibility, and preliminary efficacy of autologous hematopoietic stem cell transplantation (ASCT) in the treatment of neurological damage associated with hereditary homocysteine remethylation disorders. Meanwhile, peripheral blood, cerebrospinal fluid, and related clinical samples will be prospectively collected before and after transplantation to dynamically monitor changes in immune reconstitution and neuroinflammatory biomarkers. The study intends to explore the impact of immune system resetting on disease progression and central nervous system immune microenvironment, providing evidence for subsequent precise patient stratification and optimized therapeutic strategies.
Aged 18 to 55 years, regardless of gender.
Comprehensive clinical, biochemical, and genetic diagnosis of hereditary homocysteine remethylation disorders.
Evidence of neurological involvement, including but not limited to gait disturbance, balance impairment, cognitive dysfunction, cerebral white matter lesions.
Prior standardized metabolic therapy (folic acid, vitamin B12, betaine) with suboptimal clinical response.
Prior hematopoietic stem cell transplantation or other cell transplantation.
Severe dysfunction of critical organs (heart, lung, liver, kidney) deemed incompatible with study treatment by investigators.
Active, uncontrolled infection.
Active tuberculosis, hepatitis B, hepatitis C, HIV infection, or other infectious diseases judged inappropriate for enrollment by investigators.
Single group
Autologous Hematopoietic Stem Cell Transplantation
Other interventionASCT Regimen 1. Autologous hematopoietic stem cell collection Mobilization with chemotherapy plus cytokines: * Cyclophosphamide: 30 mg/kg/d, administered intravenously for 2 consecutive days. * G-CSF: 5-10 μg/kg/d subcutaneous injection for 5 consecutive days. Collection target: CD34+ cells ≥ 2×10⁶/kg; repeat leukapheresis permitted to meet target dose. 2. Conditioning Regimen: * Thiotepa: 5 mg/kg/d Day -7 * Fludarabine: 5 mg/kg/d Days -6 to -2 (5 total days) * Rituximab: 375 mg/m² Day -1 3. Stem cell infusion: Day 0 Infusion dose: ≥ 2×10⁶ CD34+ cells/kg
Primary Endpoint: Incidence of adverse events within 100 days post ASCT
Success rate of autologous hematopoietic stem cell collection
Time to neutrophil engraftment
Time to platelet engraftment
1-year overall survival post ASCT
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