first report of rhinocladiella mackenziei osteomyelitis with cns dissemination in a pediatric cgd patient post hsct a case report and literature review

Original title: “First report of Rhinocladiella mackenziei osteomyelitis with CNS dissemination in a pediatric CGD patient post-HSCT: A case report and literature review.”

Companies like Prime Medicine and Aurora Therapeutics are shooting their shot. Biotech Prime Medicine said in a March 3 press release it would apply for accelerated approval for its individualized gene-editing therapy for chronic granulomatous disease, an ultra-rare genetic immune disorder affecting about 1 in 200,000 people. “Prime Medicine believes the FDA’s plausible mechanism pathway has the potential to meaningfully expand patient access to therapies for rare genetic diseases,” he said. A new company, Aurora Therapeutics, officially launched on Jan. 9 with plans to create personalized CRISPR-based therapies for rare metabolic disorder phenylketonuria, which affects 1 in 15,000 US babies. Last year saw the creation and success of the first-ever personalized CRISPR gene-editing therapy. This year, the FDA wants to make it easier to create and market treatments like this for ultra-rare diseases. Experts told Healthcare Brew the traditional approval pathway wasn’t built for drugs that treat ultra-rare diseases, which affect so few patients—fewer than 1 in 50,000, according to some researchers’ definitions—and that a large clinical trial sometimes doesn’t make practical or financial sense. These FDA moves could inspire more innovation in the pharmaceutical industry, they say, particularly the struggling gene therapy market that has seen less investor interest over the last few years compared to trendier drugs like GLP-1s.

Original title: “Could relaxed regulations boost gene therapy for ultra-rare diseases?”

"It is really crazy to think about," says 18-year-old Ty Sperle. "We're definitely at a turning point in medicine." “It’s amazing to see a young person from B.C. cured of a life-threatening genetic disease through innovation from clinical teams,” she said. “This gives hope to families facing rare conditions and shows how smart investment in science can lead to life-changing care.” ... Sperle said he isn’t sure how to feel about being part of a groundbreaking moment in medicine. He is in his second year at UBC after taking half of last year off to travel to Montreal for the treatment. Ty Sperle, 18, is the first person to receive and be cured by a gene modification treatment for a rare disease called chronic granulomatous disease. The immunologist had been keeping up on advances in gene editing, so when American company Prime Medicine announced a clinical trial that was being run out of CHU Sainte-Justine in Montreal, he spoke to Dr. The disease impacts the immune system, specifically the white blood cells that engulf and destroy bacteria by releasing a substance similar to bleach. In someone with CGD, the cells don’t make the chemical, severely reducing the body’s ability to fight infection. ... “You can think of it like there was a big hole in his protective armour,” said Dr. Stuart Turvey, a pediatric immunologist at B.C. Children’s Hospital and a clinician at the B.C.

Original title: “B.C. teen first in world to be cured of rare disease through gene editing treatment | Vancouver Sun”

twin with a novel pathogenic variant in cybb induced x linked chronic granulomatous disease a rare case report of misdiagnosis as congenital cystic lung disease

Original title: “A twin with a novel pathogenic variant in CYBB induced X-linked chronic granulomatous disease: a rare case report of misdiagnosis as congenital cystic lung disease.”

chronic granulomatous disease clinical and molecular characterization of brazilian patients

Original title: “Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.”