Pompe Disease News and Research

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Pompe disease is a rare and often fatal muscle disease caused by an inherited deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen within cells. Pompe disease ranges from a rapidly fatal infantile-onset form with severe cardiac involvement to a more slowly progressive late-onset form primarily affecting skeletal muscle. There is currently no therapeutic treatment available for the disease, which affects an estimated 5,000-10,000 people worldwide.
Researchers use guide RNAs to improve base editing system

Researchers use guide RNAs to improve base editing system

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

Counteracting premature aging

Counteracting premature aging

New gene therapy for Pompe disease may replace currently available treatments

New gene therapy for Pompe disease may replace currently available treatments

Combined genetic disruptions can counteract premature aging, TSRI study suggests

Combined genetic disruptions can counteract premature aging, TSRI study suggests

Researchers find conceivable alternative way to treat Pompe disease

Researchers find conceivable alternative way to treat Pompe disease

Researchers develop molecule that binds to GAA enzymes key to progress of Pompe disease

Researchers develop molecule that binds to GAA enzymes key to progress of Pompe disease

New fluorescent chemical probes that measure enzyme levels can diagnose inherited genetic disorders

New fluorescent chemical probes that measure enzyme levels can diagnose inherited genetic disorders

Valerion announces positive results from non-clinical pilot study of VAL-1221 for treatment of Pompe disease

Valerion announces positive results from non-clinical pilot study of VAL-1221 for treatment of Pompe disease

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

Synageva announces submission of Kanuma application to Cofepris for treatment of LAL Deficiency

European scientists set up new therapeutic approaches to tackle gene defects

European scientists set up new therapeutic approaches to tackle gene defects

Research suggests that person can slow aging process by exercising regularly

Research suggests that person can slow aging process by exercising regularly

Longer looks: Doctor guilt; an abortion provider's hidden record

Longer looks: Doctor guilt; an abortion provider's hidden record

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

Tackling orphan diseases: an interview with Damian Marron, CEO, TxCell

Audentes Therapeutics closes $30 million Series A financing

Audentes Therapeutics closes $30 million Series A financing

HUGO recognizes Dr. Patrick Tan for research on genomic profiles of Asian cancers

HUGO recognizes Dr. Patrick Tan for research on genomic profiles of Asian cancers

Canine Pompe disease can now be diagnosed with genetic test

Canine Pompe disease can now be diagnosed with genetic test

Novel technology can lead to more efficient and cheaper therapy for Pompe disease

Novel technology can lead to more efficient and cheaper therapy for Pompe disease

Targeted delivery of therapeutic gene can effectively treat Pompe disease

Targeted delivery of therapeutic gene can effectively treat Pompe disease

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening