Clinical trial NCT01556516: Pregnancy and Birth Outcome in Women With Pompe Disease
Official title: Pregnancy and Birth Outcome in Women With Pompe Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pompe Disease
Lead sponsor: O & O Alpan LLC
Sponsor class: OTHER
First posted: 2012-03-16
Enrollment: 20
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 20 female subjects (18 and above) who meet eligibility criteria.

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.

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.

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

Primary outcomes:
measure: Effect of pregnancy on Pompe disease severity and progression.
timeFrame: 5years
Secondary outcomes:
measure: Effect of Pompe disease on pregnancy and pregnancy outcomes.
timeFrame: 5 years
Other outcomes:
Locations:
city: Fairfax
country: United States
facility: O&O Alpan
state: Virginia
Study officials:
affiliation: O&O Alpan
name: Ozlem Goker-Alpan, MD
role: PRINCIPAL_INVESTIGATOR
References: