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Trial record 9 of 17 for:    ozlem goker-alpan

Pregnancy and Birth Outcome in Women With Pompe Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01556516
Recruitment Status : Completed
First Posted : March 16, 2012
Last Update Posted : September 28, 2016
Information provided by (Responsible Party):
O & O Alpan LLC

Brief Summary:
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.

Condition or disease
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.

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Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pregnancy and Birth Outcome in Women With Pompe Disease
Study Start Date : February 2012
Actual Primary Completion Date : October 2014
Actual Study Completion Date : July 2016

Women with Pompe Disease

Primary Outcome Measures :
  1. 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 :
  1. 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01556516

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United States, Virginia
O&O Alpan
Fairfax, Virginia, United States, 22031
Sponsors and Collaborators
O & O Alpan LLC
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Principal Investigator: Ozlem Goker-Alpan, MD O&O Alpan
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Responsible Party: O & O Alpan LLC
ClinicalTrials.gov Identifier: NCT01556516    
Other Study ID Numbers: 11-CFCT-02
First Posted: March 16, 2012    Key Record Dates
Last Update Posted: September 28, 2016
Last Verified: September 2016
Additional relevant MeSH terms:
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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