Table 5.

Therapy for types of Lysosomal Storage Disorders identified in our study

Lysosomal Storage Disorder	Available therapies1	Potential therapies in Clinical Trials†
Gaucher	ERT and SRT (types I, II and III), none (perinatal lethal form)	Stem Cell Transplant and Gene Therapy in children and adults
Galactosialidosis	Symptomatic and supportive therapy	None
GM1 gangliosidosis	Symptomatic and supportive therapy	Stem Cell Transplant and Gene Therapy in children and adults
Infantile sialic acid storage disease	Symptomatic and supportive therapy	None
Mucolipidosis II/III	Symptomatic and supportive therapy	None
Mucopolysaccharidosis type VII	ERT	ERT, Stem Cell Transplant in children and adults
Mucopolysaccharidosis type IVA	ERT	ERT in children and adults
Mucopolysaccharidosis type I	ERT, HSCT	SRT in adults
Niemann-Pick disease type A/B	Symptomatic and supportive therapy	ERT in children and adults, SRT in adults
Niemann-Pick disease type C	SRT	2-Hydroxypropyl-beta-cyclodextrin
Sialidosis	Symptomatic and supportive therapy	None
Wolman disease	ERT	Stem Cell Transplant in adults

ERT, enzyme replacement therapy; HSCT, hematopoietic stem cell transplant; SRT, substrate reduction therapy.

¹Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct 1;4(1):27.

^†ClinicalTrials.gov accessed on 7/23/2020