| Genetic Diseases, Inborn |
NCT02300753: Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] |
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| No Longer Available | N/A | | US | EPI-743, Vincerinone (TM), Vatiquinone | Edison Pharmaceuticals Inc | Leber's Hereditary Optic Neuropathy | | | | |
NCT02376751: An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency |
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| No Longer Available | N/A | | US | sebelipase alfa, SBC-102, recombinant human lysosomal acid lipase, rhLAL | Alexion Pharmaceuticals | Lysosomal Acid Lipase Deficiency | | | | |
NCT02097251: An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient |
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| No Longer Available | N/A | | US | UX003, recombinant human beta glucuronidase, rhGUS | Joyce Fox, Ultragenyx Pharmaceutical Inc | Mucopolysaccharidosis Type 7 | | | | |
| No Longer Available | N/A | | Japan, US, Europe, RoW | Drisapersen, PRO051 | BioMarin Pharmaceutical | Duchenne Muscular Dystrophy | | | | |
NCT00962260: Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease |
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| No Longer Available | N/A | | US, RoW | Plant cell expressed recombinant glucocerebrosidase (prGCD), taliglucerase alfa | Pfizer | Gaucher Disease | | | | |
| Active, not recruiting | N/A | 10 | US, Europe | EDI200, APO200 | Edimer Pharmaceuticals | X-linked Hypohidrotic Ectodermal Dysplasia | 03/25 | 03/25 | | |