A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not to breastfeed the infants. The study, “Two successfully completed pregnancies in adult onset Pompe disease,…
Research
The first patient has been dosed in a Phase 1/2 clinical trial evaluating the safety and effects of ACTUS-101, a potential one-time gene therapy for late-onset Pompe disease developed by Actus Therapeutics. The randomized, open-label trial (NCT03533673) is still recruiting for an estimated total of six participants.
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanetdefine as including Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed with Pompe disease. A few weeks later, so was her newborn brother, Patrick. Even the doctor who diagnosed the two children didn’t know much about the disease. Before that March day in 1998, he had…
Sarepta Therapeutics and Aldevron have entered into a long-term partnership focusing on the supply of DNA molecules, called plasmids, that serve as carriers for different gene therapies, the companies announced. Under their agreement, Aldevron guarantees to provide the plasmids needed for Sarepta’s ongoing gene therapy programs and any potential programs…
Patients with late-onset Pompe disease demonstrated a deterioration in voice quality over a period of three years, but early treatment may stop this progressive impairment, a study reports. The study, “Follow-up analysis of voice quality in patients with late-onset Pompe disease,” was published in the Orphanet Journal…
Audentes Therapeutics plans to submit an investigational new drug (IND) application for its Pompe disease gene therapy AT845 this year. In a recent update, Audentes, a biotech company, discussed its portfolio of investigational gene therapies for rare diseases. “2018 was an outstanding year for Audentes,” Matthew…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
Manifestations of Pompe disease — its suspected signs or symptoms — can mimic diagnostic findings of a rare type of amyloidosis, a case study reports. The report, “Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide,” was published in the journal, Case Reports…
Recent Posts
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