Pregnancy and Birth Outcome in Women With Pompe Disease
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Pregnancy and Birth Outcome in Women With Pompe Disease|
- Effect of pregnancy on Pompe disease severity and progression. [ Time Frame: 5years ]The effect of pregnancy on Pompe disease severity and progression as measured by increase in muscle weakness, use of assistive devices for mobility or breathing based on subject's reporting.
- Effect of Pompe disease on pregnancy and pregnancy outcomes. [ Time Frame: 5 years ]The effect of Pompe disease on pregnancy and pregnancy outcomes as measured by para-and peripartum complications, and fetal development based on subjects' reporting
|Study Start Date:||February 2012|
|Study Completion Date:||July 2016|
|Primary Completion Date:||October 2014 (Final data collection date for primary outcome measure)|
|Women with Pompe Disease|
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder resulting from the deficiency of the enzyme acid alpha-glucosidase. Similar to many lysosomal storage diseases, the phenotypic spectrum in Pompe disease is varied, existing in infantile, and late-onset forms. In the classic infantile form, patients develop cardiomyopathy, resulting in premature death. In the later-onset forms, there is proximal muscle weakness similar to that of limb-girdle muscular dystrophy, which is associated with progressive weakness of different muscle groups. The primary morbidity in Pompe disease is associated with progressive respiratory insufficiency.
Events that act as metabolic stressors, in general, such as pregnancy may act as modifiers in lysosomal storage disorders. In much studied Gaucher disease, pregnancy increased the risk of acute bone crises, even in otherwise asymptomatic patients. However, similar studies lack for Pompe disease. Most data that is used to counsel patients with Pompe disease are derived from other muscular dystrophies, because obstetric risk and complications.
This is a retrospective case review study in female subjects age 18years and above. This study investigates the effects of acid alpha-glucosidase deficiency on pregnancy, pregnancy and disease outcomes in patients with adult-onset Pompe disease. The study will define the immediate effect of enzyme replacement therapy with Lumizyme/Myozyme on the outcomes of pregnancy and the fetus.
Subjects will be invited to participate through an initial mail or phone contact. If patient is interested, and agrees to participate in the study the study questionnaire will be provided to them. The patients then, need to complete the questionnaire, sign and date it and mail it back along with a release of any medical information forms. The returned signed and dated questionnaire from the patient serves as an indication of their consent to participate in the study. Alternatively, study PI or coordinator may review the questionnaire with the subject during a phone interview. However, the subject's signature is still required to attest to participate in the study.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01556516
|United States, Virginia|
|Fairfax, Virginia, United States, 22031|
|Principal Investigator:||Ozlem Goker-Alpan, MD||O&O Alpan|