Pompe Disease: Key Players And Emerging Therapies

The late-onset type of Pompe disease has an estimated life expectancy of only around age 30. This type appears in either the teenage or childhood phase. However, in the case of infantile Pompe disease type, the disease is usually fatal and has an estimated life expectancy of fewer than two years.

Pompe disease, unfortunately, has no cure.

About Pompe Disease

Pompe disease is caused by a piling-up of complex glycogen that accumulates in the body’s cells. This accumulation in certain tissues and organs damages their normal function. Late-onset, infantile-onset, and non-classic infantile-onset are the three types of Pompe disease. These types differ in severity and the age at which they usually occur.

A mutation in the GAA gene is responsible for the development of Pompe disease. The GAA gene plays a role in providing instructions on producing acid maltase (acid alpha-glucosidase) enzyme. The enzyme is found actively in lysosomes – a structure within the cells that serve as a recycling center.

Symptoms of Pompe Disease are as follows:

• Poor muscle tone.
• Weak muscles.
• Failure to gain weight.
• Enlarged liver.
• Feeding problems.
• Trouble breathing.
• Problems with hearing.
• Infections in the respiratory system.

While there is no cure for Pompe disease, the introduction of enzyme replacement therapy (ERT) is an important step towards developing a cure. Although expensive, the therapy shows promising future applications.

Several key players are working to develop treatment therapies for Pompe disease. These include BioMarin Pharmaceutical, Oxyrane, Greenovation Biotech, Lacerta Therapeutics, Selecta Biosciences, Audentes Therapeutics, Immusoft, Asklepios Biopharmaceutical, Astellas Therapeutics, Roche, Valerion Therapeutics, Sanofi, Amicus Therapeutics, Actus Therapeutics, Genzyme, and many others.

Emerging Therapies in Pompe Disease Treatment Market

• SPK-3006, By Spark Therapeutics: Phase I/II.
• AT-GAA, By Amicus Therapeutics: Phase I/II.
• ACTUS-101, By Actus Therapeutic: Phase I/II.
• Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, By Lacerta Therapeutics: Phase I.
• VAL-1221, By Valerion Therapeutics: Phase I/II.
• AT845, By Audentes Therapeutics: Phase I/II.

Source: Pompe Disease Therapeutic Pipeline Landscape Constituting Novel Drugs, By Delveinsight.