A Pilot Study of Pyridostigmine in Pompe Disease

• Status: Terminated
• Trial end date: 2018-01-01
• Target enrollment: 0
• Participant gender: All

Summary

Pyridostigmine is an acetylcholinesterase inhibitor, which degrades acetylcholine at the neuromuscular junction. Based on recent studies, pyridostigmine may be an effective adjuvant treatment for people with Pompe disease, as it increases the functional impact of this neurotransmitter.

Hypothesis: the use of pyridostigmine in Pompe disease will improve transmission of acetylcholine across the neuromuscular junction, skeletal muscle function, respiratory function, and quality of life.

• Phase: Early Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Florida
• Treatments: Bromides; Cholinesterase Inhibitors; Pyridostigmine Bromide

Criteria

Inclusion Criteria:

1. Males or females between 8 and 60 years of age;

2. Diagnosis of Pompe disease (protein assay, genotyping, and positive clinical signs)

3. No contraindication to pyridostigmine

Exclusion Criteria:

1. Already receive pyridostigmine as part of their normal clinical care at screening

2. Are pregnant - participants will receive a urine pregnancy test at screening

3. Have received acute administration of antibiotic, corticosteroid, or neuromuscular blockade medications within 30 days prior to screening

4. Any other concurrent medical condition which, in the opinion of the study team, would make the subject inappropriate to participate in the assessments