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Pregnancy and Birth Outcome in Women With Pompe Disease

This study has been completed.
Information provided by (Responsible Party):
O & O Alpan LLC Identifier:
First received: March 9, 2012
Last updated: September 27, 2016
Last verified: September 2016
This study explores the outcome and effect of pregnancy on Pompe Disease. The results are expected to guide clinicians in counseling and care of women with Pompe disease, who are planning to become pregnant, and during the pregnancy.

Pompe Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pregnancy and Birth Outcome in Women With Pompe Disease

Resource links provided by NLM:

Further study details as provided by O & O Alpan LLC:

Primary Outcome Measures:
  • 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.

Secondary Outcome Measures:
  • 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

Enrollment: 20
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

Detailed Description:

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
20 female subjects (18 and above) who meet eligibility criteria.

Inclusion Criteria:

  • Confirmed diagnosis of Pompe disease
  • Females age 18 and over
  • Have been pregnant or anticipating pregnancy in near future.

Exclusion Criteria:

  • If the diagnosis of Pompe disease is not confirmed
  • If the subject is not able to consent
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01556516

United States, Virginia
O&O Alpan
Fairfax, Virginia, United States, 22031
Sponsors and Collaborators
O & O Alpan LLC
Principal Investigator: Ozlem Goker-Alpan, MD O&O Alpan
  More Information

Responsible Party: O & O Alpan LLC Identifier: NCT01556516     History of Changes
Other Study ID Numbers: 11-CFCT-02
Study First Received: March 9, 2012
Last Updated: September 27, 2016

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases processed this record on April 28, 2017