A Pilot Study of Pyridostigmine in Pompe Disease
Pompe Disease
About this trial
This is an interventional treatment trial for Pompe Disease focused on measuring Pompe disease, Pyridostigmine
Eligibility Criteria
Inclusion Criteria:
- Males or females between 8 and 60 years of age;
- Diagnosis of Pompe disease (protein assay, genotyping, and positive clinical signs)
- No contraindication to pyridostigmine
Exclusion Criteria:
- Already receive pyridostigmine as part of their normal clinical care at screening
- Are pregnant - participants will receive a urine pregnancy test at screening
- Have received acute administration of antibiotic, corticosteroid, or neuromuscular blockade medications within 30 days prior to screening
- Any other concurrent medical condition which, in the opinion of the study team, would make the subject inappropriate to participate in the assessments
Sites / Locations
- University of Florida Clinical Research Center
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Acute Dose of Pyridostigmine
Prolonged Use of Pyridostigmine
Subjects will receive an acute administration of pyridostigmine bromide, calculated on their body weight at clinical exam (1 mg/kg, 60mg max starting dose), and will be monitored for 2 hours post administration. Subjects will also receive a pre- and post-administration single-fiber EMG, respiratory tests and strength tests in order to evaluate the function of the neuromuscular junction. All study subjects will be enrolled in this arm.
This arm will evaluate the impact of pyridostigmine bromide on respiratory and skeletal muscle function during a 90-day administration period. On Days 1 - 7 subjects will receive 0.5mg/kg of the study drug every 4 hours while awake. On Days 8 - 90 subjects will receive 1.0 mg/kg every 4 hours while awake. Quality of life will also be measured with the SF-36 health survey. Data collection will occur at multiple time points (Days 30 and 90) throughout the study. Subjects will also be contacted at least weekly via telephone. All study subjects will be enrolled in this arm.