Status of approved treatments and experimental therapies for LSDs with selected bibliography
| Therapy | Target organelle | In vitro POC | In vivo POC | Clinical trials | Regulatory approval | References |
| Enzyme replacement (ERT) | Lysosome | + | + | + | + | Brady, 2006b; Neufeld, 2011 |
| Bone marrow transplantation (BMT) | Lysosome | + | + | + | N/A | Krivit, 2002; Brady, 2006a |
| Substrate reduction therapy (SRT) | Golgi | + | + | + | + | Platt and Butters, 2004; Platt and Jeyakumar, 2008; Cox, 2010 |
| Enzyme enhancement therapy (EET) | ER/lysosome | + | − | In progress | − | Okumiya et al., 2007; Fan, 2008 |
| Gene therapy (GT) | Nucleus | + | + | In progress | − | Gritti, 2011; Tomanin et al., 2012 |
| Stop codon read-through | Nucleus | + | − | − | − | Brooks et al., 2006 |
| Calcium modulation therapy (CMT) | ER | + | + | − | − | Lloyd-Evans et al., 2008 |
| Enhanced exocytosis therapy (ExT) | Exosome | + | − | − | − | Strauss et al., 2010; Medina et al., 2011 |
| Chaperone therapy by HSp70 (CT) | Lysosome | + | − | − | − | Kirkegaard et al., 2010 |
| Proteostasis regulation therapy (PRT) | ER | + | − | − | − | Balch et al., 2008; Mu et al., 2008 |
| Cholesterol removal using cyclodextrin in NPC1 disease | Lysosome | + | + | − | − | Davidson et al., 2009; Ward et al., 2010; Aqul et al., 2011 |
| Therapy | Target organelle | In vitro POC | In vivo POC | Clinical trials | Regulatory approval | References |
| Enzyme replacement (ERT) | Lysosome | + | + | + | + | Brady, 2006b; Neufeld, 2011 |
| Bone marrow transplantation (BMT) | Lysosome | + | + | + | N/A | Krivit, 2002; Brady, 2006a |
| Substrate reduction therapy (SRT) | Golgi | + | + | + | + | Platt and Butters, 2004; Platt and Jeyakumar, 2008; Cox, 2010 |
| Enzyme enhancement therapy (EET) | ER/lysosome | + | − | In progress | − | Okumiya et al., 2007; Fan, 2008 |
| Gene therapy (GT) | Nucleus | + | + | In progress | − | Gritti, 2011; Tomanin et al., 2012 |
| Stop codon read-through | Nucleus | + | − | − | − | Brooks et al., 2006 |
| Calcium modulation therapy (CMT) | ER | + | + | − | − | Lloyd-Evans et al., 2008 |
| Enhanced exocytosis therapy (ExT) | Exosome | + | − | − | − | Strauss et al., 2010; Medina et al., 2011 |
| Chaperone therapy by HSp70 (CT) | Lysosome | + | − | − | − | Kirkegaard et al., 2010 |
| Proteostasis regulation therapy (PRT) | ER | + | − | − | − | Balch et al., 2008; Mu et al., 2008 |
| Cholesterol removal using cyclodextrin in NPC1 disease | Lysosome | + | + | − | − | Davidson et al., 2009; Ward et al., 2010; Aqul et al., 2011 |
POC, proof of concept.