FDA’s Center for Drug Evaluation and Research (CDER) has announced the launch of the new Accelerating Rare disease Cures (ARC) Program. The goal of the CDER ARC Program is to speed and increase the development of effective and safe treatment options addressing the unmet needs of patients with rare diseases. Launched in May 2022, CDER’s Accelerating Rare disease
Antiphospholipid syndrome is rare in adults and even less common among children. Each year, around two of every 100,000 American adults receive a new diagnosis of antiphospholipid syndrome, or APS, an autoimmune disease known to cause inflammation and recurring, potentially fatal, blood clots. The number of children with APS is likely much smaller but unknown –
Model replicates features of complex disease and provides platform for screening existing drugs Using a stem-cell-derived model, researchers have identified two drug candidates that may slow dry age-related macular degeneration (AMD), a leading cause of blindness for which no treatment exists. The scientists, from the National Eye Institute (NEI), part of the National Institutes of
The Stem Cells for Huntington’s Disease ( SC4HD ) is a new international consortium created to drive advanced therapy drugs (ATMP), through stem cell transplantation, to treat Huntington’s disease. The entity, made up of twenty-eight renowned researchers from ten countries, has been officially featured in the Journal of Huntington’s Disease . The main objectives of the SC4HD consortium are to
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal thrombotic microangiopathy caused by autoantibody-mediated severe deficiency of ADAMTS13. Standardized definitions of response, exacerbation, remission, and relapse were initially proposed in 2003 and modified by the International Working Group for TTP in 2017. These definitions, which have been widely used in clinical practice and research, are
First gene therapy to receive full EU marketing authorization for eligible MLD patients. One-time treatment with Libmeldy has been shown to preserve motor and cognitive function. Orchard Therapeutics, a global gene therapy leader, and its research alliance partners Fondazione Telethon and Ospedale San Raffaele, today announced that the European Commission (EC) granted full (standard) market authorization
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder. Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can significantly shorten their life expectancy. The study was published in the journal Nature, and was
Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. The scientists reported
Rare Disease & Regenerative Medicine 2019 This report provides industry specific statistics compiled from cell therapy, gene therapy, tissue engineering, and other regenerative medicine companies active in developing therapies for rare disease and provides context for the potential of regenerative medicine to improve upon the current standard of care.
Mount Sinai surgeons have performed the first-ever spinal tethering surgery in New York City to correct idiopathic scoliosis—a sideways curvature in the spine—in children and adolescents. The procedure performed by Baron S. Lonner, MD, Professor of Orthopedic Surgery, and Pediatrics, Icahn School of Medicine at Mount Sinai, and Chief of Minimally Invasive Scoliosis Surgery, Mount
