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 in mice suggests. This finding, “Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with…
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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, especially in states that don’t screen newborns for the disease, researchers said. The case was briefly described in the correspondence…
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AT-GAA Continues to Induce Motor, Lung Improvements in Pompe Adult Patients, Phase 1/2 Study Shows
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 trial. Pompe disease is caused by acid alpha-glucosidase (GAA) enzyme deficiency, leading to the build-up of glycogen…
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 of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance,” the study…
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 of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
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 genetic disorder, a study shows. Researchers say facilitating direct referral might help with early diagnosis of Pompe. The study,…
Natural genetic variations, or polymorphisms, in the ACE gene do not account for the large variability in disease course, or the response to enzyme replacement therapy (ERT) observed among children and adults with Pompe disease, a study suggests. More research is needed to identify the…
A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. In addition to revealing four previously unreported disease-causing mutations, the data may help researchers and clinicians better understand the associations between…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…