Clinical trials: Nonaka Disease
Hereditary Inclusion Body Myopathy, GNE Myopathy
GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and…
- Conditions
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM)
- Trial name
- NCT01784679
- Where
- 5 sites in United States, Bulgaria and 3 more
- Volunteers
- 319 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
GNE Myopathy, Hereditary Inclusion Body Myopathy
A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy
GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA).
- Trial name
- GNE Myopathy (NCT01517880)
- Testing
- Sialic Acid Extended Release (SA-ER)
- Where
- 4 sites in United States, Israel
- Volunteers
- 46 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV)
Efficacy Confirmation Study of NPC-09
GNE myopathy is a distal myopathy that is thought to be caused by a mutation in the GNE gene that encodes an enzyme in the biosynthetic process of aceneuramic acid (typical sialic acid).
- Conditions
- GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV), Hereditary Inclusion Body Myopathy (hIBM), Nonaka Disease
- Trial name
- NCT04671472
- Testing
- NPC-09
- Where
- 5 sites in Japan
- Volunteers
- 14 people
- Sponsor
- Nobelpharma