Hereditary Diffuse Leukoencephalopathy with Spheroids
Conditions
Interventions
Treatment Group:Hematopoietic Stem Cell Transplantation
Sponsors
Shanghai Sixth People's Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Diagnosed as hereditary diffuse leukoencephalopathy with spheroids as defined by: (1) at least two of the following clinical symptoms and signs: cognitive impairment; psychiatric disorders; pyramidal involvement; parkinsonism; epilepsy; (2) autosomal dominant inheritance or sporadic inheritance; (3) cerebral CT or MRI showed bilateral white matter lesions; (4) with CSF1R gene mutation rated as "pathogenic" or "likely pathogenic"; or the ACMG rating was "uncertain significant" but brain biopsy showed diffuse white matter lesions with axonal spheroids and/or pigment glial cells; or the pathogenicity of the mutation had been verified by well-established in vivo or in vitro functional studies; (5)exclude other causes of white matter lesions (vascular dementia, multiple sclerosis, leukodystrophy, etc.). 2. Aged >= 18 years old and <= 60 years old, male or female. 3. Informed consent was obtain from the subject or a guardian with legal capacity if the subject has no or limited capacity. 4. Availability of a willing 10/10 HLA-matched sibling or non-relative donor.
Exclusion criteria
Exclusion criteria: 1. Age of onset = 3); 7. Receipt of an investigational study drug or procedure within 1 year.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| progression-free survival; | — |
Secondary
| Measure | Time frame |
|---|---|
| MRI severity scoring;MMSE score;MoCA score;HAMD score;HAMA score;dimensional gait analysis;UPDRS score;major functional disabilities (MFD) -free survival;overall survival; | — |
Countries
China
Contacts
Public ContactCao Li
Shanghai Sixth People's Hospital
Outcome results
None listed