Clinical trials: Inherited Metabolic Disorders
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Tay-Sachs Disease, Sandhoff Disease
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of…
- Trial name
- NCT04669535
- Testing
- AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Terence Flotte