Clinical trials: GNE Myopathy
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
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
Multi-Center Study of ManNAc for GNE Myopathy
GNE myopathy is a rare genetic muscle disease characterized by progressive muscle atrophy and weakness. The disease is caused by mutations in the gene that encodes the enzyme that initiates and regulates N-acetylneuraminic acid…
- Trial name
- MAGiNE (NCT04231266)
- Testing
- ManNAc
- Where
- 10 sites in United States
- Volunteers
- 54 people
- Sponsor
- Leadiant Biosciences, 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
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
GNE Myopathy
First-in-human Study of UX016 in GNEM
The goal of this study is to assess the safety and dose of UX016 and its impact on muscle strength in adults with GNE Myopathy (GNEM).
- Trial name
- NCT07511556
- Testing
- UX016
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Inclusion Body Myopathy (HIBM)
Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)
Hereditary Inclusion Body Myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA), a critical component of many muscle proteins, resulting in a deficiency in…
- Trial name
- NCT01359319
- Testing
- Sialic Acid Extended Release (SA-ER) Tablets, Sialic Acid Extended Release (SA-ER) Tables
- Where
- 2 sites in United States
- Volunteers
- 26 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
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