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The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The first healthy volunteers have been dosed in a Phase 1 clinical trial evaluating MZE001, Maze Therapeutics’ experimental oral therapy for Pompe disease. “The initiation of this study is a significant milestone for both Maze and the Pompe community as we advance into the clinic with a potentially…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Long-term treatment with Nexviazyme (avalglucosidase alfa) safely and effectively improves lung function and walking ability in children and adults with late-onset Pompe disease (LOPD), according to nearly two years of data from the Phase 3 COMET trial. These findings, along with positive long-term results from the Phase 2…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Acceptable safety is being seen to date in four adults with late-onset Pompe disease (LOPD) given the one-time gene therapy AT845 in the FORTIS Phase 1/2 trial, its developer, Astellas Gene Therapies, announced. Interim study data in these four enrolled patients, as of the Dec. 3 cutoff date, shows…
Long-term treatment with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — results in variable but satisfactory motor and respiratory outcomes among older adults recently diagnosed with late-onset Pompe disease (LOPD), a study from Germany reported. According to its researchers, these findings were…
People with late-onset Pompe disease (LOPD) do not show significant brain abnormalities or general cognitive impairment, in contrast with some patients with the classical infantile-onset form, a study shows. The study, “Is the brain involved in patients with late-onset Pompe disease?,” was published in the…
An investigational gene therapy called AT845 could effectively increase the activity of an enzyme that’s deficient in mouse and nonhuman primate models of Pompe disease, according to a study. The research also highlights potential complications that can occur when gene therapies designed for use in humans are tested in…
Maze Therapeutics has announced its plans to begin clinical testing of MZE001, its lead candidate therapy for Pompe disease, in the first half of this year. The California-based precision medicine company raised $190 million in financing — led by Matrix Capital Management — to support the development of…
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