GNE Myopathy Clinical Trial
Official title:
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 ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.
The main objective of this program is to better understand HIBM.
The specific HIBM Disease Registry's objectives are to:
- Understand the geographic distribution and regional incidence/prevalence of GNEM.
- Obtain an assessment of the medical history, clinical presentation and progression of
disease in GNEM patients and provide a connection for subjects to the broader GNEM
community and associated programs.
- Provide customized information to subjects and their physicians that desire information
on their disease status and progression.
The specific HIBM Natural History Study's objectives are to:
- Characterize HIBM disease presentation and progression over time using relevant clinical
assessments of muscle strength and function.
- Obtain information to better characterize quality of life and understand the timing of
significant life changing events in HIBM patients using patient-reported outcomes.
- Identify biomarkers and efficacy measures for use as endpoints in future clinical
studies.
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| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT01417533 -
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
|
||
| Completed |
NCT01634750 -
Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
|
Phase 1 | |
| Completed |
NCT01517880 -
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
|
Phase 2 | |
| Completed |
NCT02377921 -
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)
|
Phase 3 | |
| Terminated |
NCT02736188 -
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)
|
Phase 3 | |
| Recruiting |
NCT04009226 -
International GNE Myopathy Patient Registry
|
||
| Completed |
NCT01830972 -
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
|
Phase 2 | |
| Completed |
NCT04671472 -
Efficacy Confirmation Study of NPC-09
|
Phase 3 | |
| Completed |
NCT02346461 -
An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
|
Phase 2 | |
| Active, not recruiting |
NCT04231266 -
Multi-Center Study of ManNAc for GNE Myopathy
|
Phase 2 | |
| Terminated |
NCT02731690 -
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
|
Phase 2 |