Clinical trials: GNE Myopathy
GNE Myopathy
An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
Background: Patients with GNE myopathy have progressive muscle weakness and can have difficulty walking and decreased mobility. The disease is a rare genetic disorder that results from a gene mutation in a key step in the body's…
- Trial name
- NCT02346461
- Testing
- ManNAc
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles
Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
The objective of this study is to evaluate the long-term safety and efficacy of Ace-ER treatment in subjects with GNEM.
- Conditions
- Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy
- Trial name
- NCT02736188
- Testing
- Aceneuramic Acid Extended-Release Tablets
- Where
- 14 sites in United States, Bulgaria and 5 more
- Volunteers
- 143 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles
A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment
The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM participants with severe ambulatory impairment.
- Conditions
- Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy
- Trial name
- NCT02731690
- Testing
- Aceneuramic Acid Extended-Release
- Where
- 5 sites in United States, Bulgaria and 1 more
- Volunteers
- 42 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles
Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
The primary objective of this study is to evaluate the effect of 6 g/day aceneuramic acid extended-release (Ace-ER) treatment of participants with GNEM on upper extremity muscle strength (upper extremity composite [UEC] score) as…
- Conditions
- Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy
- Trial name
- GNEM (NCT02377921)
- Testing
- aceneuramic acid extended-release (Ace-ER)
- Where
- 13 sites in United States, Bulgaria and 5 more
- Volunteers
- 89 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM)
An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy
The safety objectives of the study are to: evaluate additional long-term safety of SA-ER treatment of participants with GNE myopathy previously treated with SA-ER at dose of 6g/day (Part I); evaluate the safety of 12g /day SA…
- Trial name
- NCT01830972
- Testing
- SA-ER 500 mg, SA-IR 500 mg
- Where
- 4 sites in United States, Israel
- Volunteers
- 59 people
- Sponsor
- Ultragenyx Pharmaceutical Inc