An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02346461|
Recruitment Status : Active, not recruiting
First Posted : January 27, 2015
Last Update Posted : July 6, 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|
|Actual 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 ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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)|