Pregnancy and Birth Outcome in Women With Pompe Disease

Therapuetic Areas:Endocrinology
Age Range:18 - Any
Start Date:February 2012
End Date:February 2017
Contact:Ozlem Goker-Alpan, MD

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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 (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

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.

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
We found this trial at
Fairfax, Virginia 22031
Fairfax, VA
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