Clinical trials: Nonaka Disease
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
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, GNE Related Diseases
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Background: GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles.
- Trial name
- NCT01417533
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
GNE Myopathy, Hereditary Inclusion Body Myopathy
International GNE Myopathy Patient Registry
GNE myopathy, an ultra-rare disease, 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…
- Trial name
- NCT04009226
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 430 people
- Sponsor
- Newcastle University
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
Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM).
- Conditions
- Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
- Trial name
- NCT01902940
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 350 people
- Sponsor
- Ludwig-Maximilians - University of Munich