An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
|ClinicalTrials.gov Identifier: NCT02346461|
Recruitment Status : Active, not recruiting
First Posted : January 27, 2015
Last Update Posted : January 26, 2018
- People with GNE myopathy have muscle weakness and can have difficulty walking . The disease comes from a gene mutation related to the production of a sugar called sialic acid. Researchers think decreased sialic acid may cause the muscle problems. Researchers are testing the drug ManNAc which is a building block of sialic acid. It is a powder that is dissolved in water.
- To evaluate the safety of 90 days of ManNAc given by mouth.
- Adults ages 18 60 diagnosed with GNE myopathy.
- Eligible participants will be admitted to the NIH Clinical Center for the first visit and will stay 10 14 days. Participants will have:
- Medical history and physical exam
- Electrocardiogram to measure heart function
- Blood and urine tests
- Muscle strength tests
- Magnetic resonance imaging (MRI) muscle scans. Participants will lie on a table that slides in and out of a metal tube that takes pictures
- Muscle biopsies. Samples of muscle will be taken, one each from the arm and leg.
- The study drug as a liquid twice a day
- Participants may wear a small activity monitor throughout the study. It can be worn on a waistband.
- After discharge from the initial visit, participants will take the study drug at home. Participants will need to record if they miss any doses.
- Visit 2 will be at 6 weeks for 1 2 days of medical evaluation. Blood samples will be drawn.
- Visit 3 will be at the end of the study. Participants will stay in the NIH Clinical Center for 5 6 days for medical evaluations, muscle tests, and scans. Another muscle biopsy will be taken. Blood samples will be drawn.
- Participants will be contacted by telephone or email about 4 times after leaving the clinic.
|Condition or disease||Intervention/treatment||Phase|
|GNE Myopathy||Drug: ManNac. Drug: ManNac||Phase 1 Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||14 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy|
|Study Start Date :||January 24, 2015|
|Primary Completion Date :||December 30, 2017|
|Estimated Study Completion Date :||August 30, 2018|
Active Comparator: Cohot A
6 subjects on Cohort A will receive ManNAc 3,000 mg twice daily (6,000 mg/day) for 7 days and, if safe, continue on 6,000 mg twice daily (12,000 mg/day) for the remainder of the study.
At doses of 3,000 mg and 6,000 mg twice daily for a total dose of 6,000 and 12,000 mg per day
Active Comparator: Cohort B
6 subjects on Cohort B will receive ManNAc 6,000 mg twice daily (12,000 mg/day) for 90 days.
At doses of 6,000 mg twice daily (12,000 mg per day).
- Safety [ Time Frame: Day 1-120 ]
- Pharmacokinetics and Pharmacodynamics [ Time Frame: Baseline, Day 1-93 ]
- Biochemical efficacy [ Time Frame: Baseline, Day 1-93 ]
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02346461
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Nuria Carrillo-Carrasco, M.D.||National Human Genome Research Institute (NHGRI)|