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
Formed 15 years ago, the Genetic Disorders of Mucociliary Clearance Consortium is now co-led by UNC’s Stephanie Davis, MD, to continue advancing knowledge and treatments for genetic chronic pulmonary conditions. Source UNC Health Care To continue the push toward clinical trial readiness for individuals with rare diseases, the National Center for Advancing Translational Sciences, in
Patients with neurological disease that causes blindness, disability go treatment free Source Northwestern University A stem cell transplant reversed a debilitating neurological disease that causes half of the patients to go blind and lose the ability to walk five years after diagnosis. Most of the patients stayed better five years after the transplant and were
The U.S. Food and Drug Administration (FDA) has granted fast track designation to suvodirsen as a treatment for people with Duchenne muscular dystrophy (DMD). The agency’s decision — which will expedite the review process for suvodirsen — was based on experimental and preclinical data demonstrating the treatment’s potential therapeutic activity. Suvodirsen already had been granted orphan drug designation for the treatment of DMD
