Rare Diseases News & Journal Articles

• Alert FDA Approves First-Ever Topical Gene Therapy The topical treatment will be used to treat wounds in patients with dystrophic epidermolysis bullosa.
  Medscape Medical News, May 19, 2023
• UniQure to Sell Royalty Interest in Blood Disorder Therapy Dutch drug developer uniQure said on Monday it would sell a part of the royalty rights for the world's most expensive treatment Hemgenix to HealthCare Royalty and Sagard Healthcare for up to $400 million in cash.
  Reuters Health Information, May 15, 2023
• AAN 2023 US Incidence, Prevalence of Myasthenia Gravis Rising The incidence and prevalence of myasthenia gravis have increased in the United States, likely due to increased diagnosis and more awareness of the disease over time.
  Medscape Medical News, May 02, 2023
• The Next Big Thing in Cancer Research What is the next big thing in cancer research? Experts across the globe provide their insights.
  Medscape Medical News, April 28, 2023
• AAN 2023 Novel Agent Offers Hope for Hereditary ATTR Polyneuropathy The investigational antisense agent eplontersen slows disease progression and im-proves quality of life in hereditary transthyretin-mediated amyloid polyneuropathy, final data from a phase 3 trial indicate.
  Medscape Medical News, April 25, 2023
• The War's Toll on Russia's and Ukraine's Healthcare Systems Hundreds of hospitals in Ukraine have been damaged or destroyed, and Russia is experiencing a severe drug shortage.
  Medscape Medical News, April 25, 2023
• Cancer, Heart Disease Vaccines May Be Ready by 2030, Moderna Says 'I think what we have learned is that if you ever thought that mRNA was just for infectious diseases, or just for COVID, the evidence now is that's absolutely not the case,' said Moderna CMO Paul Burton.
  WebMD Health News, April 12, 2023
• FDA's Marks Hopes to Align Global Regulators to Boost Gene Therapy FDA official Peter Marks said on Wednesday he hopes to align global regulations to boost commercialization for gene and cell therapies to get more treatments launched for patients with rare diseases.
  Reuters Health Information, March 29, 2023
• FDA to Take Steps to Help Gene Therapies Get Accelerated Approval The FDA is moving to optimize the development of gene therapies, including encouraging the use of biomarkers to help get accelerated approval of therapies for serious conditions, an agency official said.
  Reuters Health Information, March 20, 2023
• ACC/WCC 2023 'Unheard of' PAH Improvement With Novel Drug: STELLAR Sotatercept, a designer molecule that removes a key driver of pulmonary arterial hypertension, was efficacious and safe in the first of three pivotal trials.
  MDedge News, March 14, 2023
• Are Early Childhood Viral Infections Linked With Asthma? The question is whether the virus itself causes asthma or whether the virus simply uncovers underlying asthma in predisposed children, said one researcher.
  Medscape Medical News, March 10, 2023
• Trends in Dermatomyositis and Polymyositis Mortality An analysis of mortality data provides insight into the mortality trends for dermatomyositis or polymyositis.
  Arthritis Research & Therapy, March 10, 2023
• FDA OKs First Treatment for Friedreich's Ataxia Omaveloxolone has been approved for adults and adolescents aged 16 and older who have the ultra-rare neurodegenerative disorder Friedreich's ataxia.
  Medscape Medical News, March 01, 2023
• Patient on $50,000-a-Week Cancer Drug Fears Leaving a Huge Debt When Medicare stops paying for a pricey drug that prolongs life, a retired physician considers giving up treatment to spare his family enormous debt.
  Kaiser Health News, February 15, 2023
• Disappointing Topline Results for Clazosentan in Aneurysmal SAH Clazosentan failed to prevent clinical deterioration as a result of delayed cerebral ischemia in patients with aneurysmal subarachnoid hemorrhage in the phase 3 REACT trial.
  Medscape Medical News, February 06, 2023
• Acute Hepatic Porphyrias Not as Rare as Previously Thought Recent treatment advances have improved the outlook for patients with acute hepatic porphyrias.
  MDedge News, February 01, 2023
• Alert FDA Approves Pirtobrutinib for R/R Mantle Cell Lymphoma This drug is the first BTK inhibitor approved to treat mantle cell lymphoma in this setting. Approval was based on overall response rates and duration of response in the phase 1/2 BRUIN trial.
  Medscape Medical News, January 27, 2023
• Pharmacogenomics in Stroke and Cardiovascular Disease This review provides an overview of the genetic variants that influence individual responses to aspirin, clopidogrel, warfarin, and statins and the clinical implications for stroke patients.
  Stroke, January 26, 2023
• Topical Gene Therapy Gel Heals Dystrophic EB Wounds The first topical in vivo gene therapy to reach late-stage development heals dystrophic epidermolysis bullosa wounds, researchers report.
  Medscape Medical News, January 25, 2023
• HR-QoL in Women With Primary Ovarian Insufficiency This scoping review examines how idiopathic primary ovarian insufficiency impacts a woman's health-related quality of life. What interventions might address the psychosocial needs of these women?
  Human Reproduction, January 13, 2023