Innovative gene therapy offers a new option for children with a rare, progressive neurodevelopmental disease The U.S. Food and Drug Administration approved Fayuvi (rebisufligene etisparvovec-hopf), the first treatment for pediatric patients with mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome type A., MPS IIIA is a rare inherited disease that progressively damages the
Autonomous systems and advanced language models have successfully identified complex injuries and disorders with unprecedented accuracy, enabling faster diagnoses and improving the chances of treatment and cure. Medicine faces a challenge that defines the fate of millions: detecting diseases before they progress. In this arena, time makes the difference between life and death, between a simple treatment
Zycubo (copper histidinate) is a new under-the-skin injection that the FDA has approved for treating children with a rare genetic condition that affects copper metabolism, known as Menkes disease. Menkes disease is caused by mutations in the copper transporter gene (ATP7A), making it hard for the body to absorb and use copper, an important mineral
Pfizer Inc. (NYSE: PFE) announced today that it is voluntarily withdrawing all lots of OXBRYTA ® (voxelotor) for the treatment of sickle cell disease (SCD) at this time, in all markets where it is approved. Pfizer is also discontinuing all active voxelotor clinical trials and expanded access programs worldwide. Pfizer’s decision is based on the totality of
The U.S. Food and Drug Administration approved Adzynma, the first recombinant (genetically engineered) protein product indicated for prophylactic (preventive) or on demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP), a rare and life-threatening blood clotting disorder. “The FDA remains deeply committed in our efforts to help facilitate
New disease could provide insights into how the cell’s recycling system contributes to a healthy brain. Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine. Scientists from NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed
Once weekly efanesoctocog alfa provides superior bleeding prevention to prestudy prophylaxis for patients with severe hemophilia A, according to a study published in the Jan. 26 issue of the New England Journal of Medicine. Annette von Drygalski, M.D., Pharm.D., from the University of California in San Diego, and colleagues conducted a phase 3 study involving patients
Identified in 2020, VEXAS syndrome is a rare, genetically linked disorder with a high death rate. VEXAS syndrome is a disease that causes inflammatory and hematologic (blood) manifestations. The syndrome is caused by mutations in the UBA1 gene of blood cells and acquired later in life. Patients do not pass the disease to their children. The syndrome
A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in the first approval of a treatment for advanced alveolar soft part sarcoma (ASPS). The immunotherapy drug atezolizumab (Tecentriq) was recently approved by the U.S. Food and Drug Administration (FDA)(link is external) for the treatment of adults and
Therapy up to 4.5 years led to gains in motor function: analysis published in Brain & Development Up to 4.5 years of Spinraza (nusinersen) treatment led to meaningful improvements in motor function in adolescents and adults with spinal muscular atrophy (SMA), according to a medical records analysis. “[Spinraza] was effective in long-term follow-up,” researchers wrote. Noting a dearth of
