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Condition

Pompe Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Pompe Disease?

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.

The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.

The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.

The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

What are the causes for Pompe Disease?

Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.

How prevalent is Pompe Disease?

Pompe disease affects about 1 in 40,000 people in the United States. The incidence of this disorder varies among different ethnic groups.

Advocacy Organizations

Providing supportive services, education, and information to patients, caregivers, medical professionals and community stakeholders for Pompe Disease.

Is Pompe Disease an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Latest Research

Latest Advance
Study
  • Condition: Glycogen Storage Disease Type Ib (GSD Ib)
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Empagliflozin
  • Number of Patients: 1
  • Published —
This case report describes a patient with GSD Ib that was treated using empagliflozin.
Latest Advance
Study
  • Condition: Late Onset Pompe Disease
  • Journal: Ideggyogyaszati szemle
  • Treatment Used: Enzyme Replacement Therapy
  • Number of Patients: 13
  • Published —
This study tested the safety and efficacy of using enzyme replacement therapy to treat patients with late onset Pompe disease.

Clinical Trials

Clinical Trial
Drug
  • Status: Not yet recruiting
  • Study Type: Drug
  • Participants: 40
  • Start Date: January 1, 2022
Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease Stably Treated With Enzyme Replacement Therapy
Clinical Trial
Drug
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 12
  • Start Date: November 1, 2020
Developing a Potential Cure for Pompe Disease: Clinical Specimen Collection From Individuals With Pompe Disease