Table 2.

Transplant outcome for gangliosidoses

Author	Diagnosis and pre-transplant disease status	Age at transplant	Transplant details			Transplant complications	Transplant outcome	Disease outcome	Remarks
			Donor and stem cell	Conditioning	Cell dose
GM1 gangliosidosis
Shield et al. (2005)	Juvenile GM1 gangliosidosis Asymptomatic (normal development, MRI brain and EEG)	7 months	MSD (non-carrier)	NA	NA	None	Mixed chimerism (70–80% donor) at 7 years post-BMT	Neurological deterioration from 20–25 months. MRI brain at 29 months: Demyelination and dysmyelination EEG at 29 months: Diffuse cerebral dysfunction Wheelchair bound and seizure at 7 years old	Diagnosed by family screening Elder sister had late infantile/juvenile form
GM2 gangliosidosis
Jacobs et al. (2005)	Subacute Tay-Sachs disease 2 episodes of seizures Normal neurological, ophthalmological examination Normal neuropsychological testing Normal EEG MRI: Mild, non-specific signal abnormalities	3 years 10 months	MUD TCD marrow	Bu/cy/ATG	NA	Ciclosporin-related neurological toxicity	Mixed chimerism	Deterioration of neurological dysfunction Brain MRI, EEG and neuropsychological testing at 6 months and 18 months post-BMT showed pattern of deterioration of deterioration similar to the natural course of the disease in the patient’s older, untreated sister with ISD	Substrate reduction therapy started 18 months post-BMT
Bley et al. (2011)	3 Tay-Sachs disease 2 Sandhoff disease	Average: 10.5 years	NA	NA	NA	NA	1 died of transplant-related complication 2 died of disease-related complication 1 died from aspiration pneumonia	No significant differences compared to untransplanted patients and no milestones were gained after procedure