Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Genzyme, a Sanofi Company
Age
8–any
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
The patient must provide signed, informed consent prior to performing any study-related procedures.
The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis
The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe
The patient must have documented onset of symptoms of Pompe disease after 12 months of age
The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing
The patient must be able to perform pulmonary and muscle function testing in the supine position
The patient must be able to provide reproducible muscle and pulmonary function test results within 10% of each other performed on Day 1 and Day 2 of the Screening/Baseline visit and forced vital capacity measurements within 10% of each other performed in the upright position on Day 1 and Day 2 of the Screening/Baseline visit
The patient must have the ability to comply with the clinical protocol
You may not be if
The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted);
The patient requires the use of invasive ventilatory support.
The patient requires the use of noninvasive ventilatory support during waking hours.
The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source
The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations
The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance including all prescribed evaluations and follow-up activities
The patient has a major congenital abnormality
For female patients only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study
Clareo Health | A Prospective, Observational Study in Patients With Late-Onset Pompe Disease
