Pregnancy and Birth Outcome in Women With Pompe Disease

• ClinicalTrials.gov Identifier: NCT01556516
• Recruitment Status: Completed
• First Posted: March 16, 2012
• Last Update Posted: September 28, 2016
• Sponsor: O & O Alpan LLC
• Information provided by (Responsible Party): O & O Alpan LLC

Study Description

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.

Study Design

• 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

Groups and Cohorts

Group/Cohort
Women with Pompe Disease

Outcome Measures

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

Eligibility Criteria

• 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.

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

Locations

United States, Virginia

O&O Alpan

Fairfax, Virginia, United States, 22031

Sponsors and Collaborators

O & O Alpan LLC

Investigators

• Principal Investigator: Ozlem Goker-Alpan, MD; O&O Alpan

More Information

• Responsible Party: O & O Alpan LLC
• ClinicalTrials.gov Identifier: NCT01556516
• Other Study ID Numbers: 11-CFCT-02
• First Posted: March 16, 2012
• Last Update Posted: September 28, 2016
• Last Verified: September 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