News

November 14, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 14, 2019November 14, 2019

Study Finds Association Between Whole-body MRI Measurements and Muscle Function Scores

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Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results, a new study suggests. The study, “Whole‐body MRI in ... Read more

November 7, 2019November 7, 2019

Molecular ‘Tag’ Improves Efficacy of Gene Therapy for Pompe Disease in Mice, Study Shows

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A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene therapy in a mouse model of Pompe disease, a recent ... Read more

October 31, 2019October 31, 2019

Enzyme Replacement Therapy Loses Effectiveness in Pompe Patients with Long-term Use, Study Suggests

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Long-term enzyme replacement therapy (ERT) to treat people with Pompe disease loses effectiveness in maintaining walking ability, muscle strength, and lung function, a new study shows. Despite these results, ERT ... Read more

October 24, 2019October 24, 2019

Active Ingredient of Blood Pressure Treatment Boosts ERT’s Efficacy in Skeletal Muscles, Mouse Study Suggests

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Adding carvedilol, the active compound of a blood pressure medicine, to enzyme replacement therapy (ERT) for Pompe disease can improve its effectiveness in reaching and strengthening skeletal muscles, a study ... Read more

October 16, 2019October 16, 2019

Fluid Build-up in Newborn Could Be Sign of Infantile-onset Pompe, Case Study Says

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A case report of a baby boy diagnosed with abnormal fluid accumulation due to infantile-onset Pompe disease highlights the importance of considering this type of Pompe as the root cause, ... Read more

October 9, 2019October 9, 2019

AT-GAA Continues to Induce Motor, Lung Improvements in Pompe Adult Patients, Phase 1/2 Study Shows

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Amicus Therapeutics’s investigational therapy AT-GAA (ATB200/AT221) continues to show promise as a safe and effective treatment for adults with Pompe disease, according to the latest results from an ongoing Phase 1/2 clinical ... Read more

October 2, 2019October 2, 2019

Enzyme Replacement Therapy Safe, Effective for Pompe Patients in Japan, Study Shows

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The use of enzyme replacement therapy is safe and effective in Japanese people living with Pompe disease, a new study shows. Titled “Long-Term Observation of the Safety and Effectiveness ... Read more

September 27, 2019September 27, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 25, 2019September 25, 2019

Direct Referral to Expert Centers May Lead to Early Pompe Diagnosis, Study Suggests

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People with Pompe disease symptoms who are not directly referred to expert centers for a diagnostic work-up tend to take much longer to be properly diagnosed with this rare ... Read more