The Rare Disease Report page is a resource for medical news and expert insights on rare diseases. This page features expert-led coverage, articles, videos and research on the therapies and development of treatments for sickle cell disease, multiple myeloma, and more.
April 5th 2024
Katie Abouzahr, MD, explains the transformative potential of nipocalimab for the treatment of patients with autoantibody-driven conditions.
Addressing Healthcare Inequities: Tailoring Management Plans to Address Healthcare Disparities in Cystic Fibrosis
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BURST Expert Illustrations & Commentaries™: A Closer Look at the Role of Complement Inhibitors in the Treatment of Paroxysmal Nocturnal Hemoglobinuria
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Oncology Briefings: How Do We Integrate New Data and Treatment Options to Optimize Outcomes for Patients with Hemolytic Anemias?
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Clinical ShowCase™: Taking Control of Paroxysmal Nocturnal Hemoglobinuria
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Cases and Conversations™: Enhancing Diagnosis and Management of Patients with Autoimmune Hemolytic Anemia
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Strategies to Manage Transfusional Iron Overload in Patients with ß-hemoglobinopathies: Optimizing Patient Outcomes
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Community Practice Connections™: Enhancing Diagnosis and Management of Patients with Autoimmune Hemolytic Anemia
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Let’s Get “Real”: Alpha-1 Antitrypsin Deficiency—Case-Based Perspectives on Managing Associated Emphysema
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(CME) Community Practice Connections™: A Closer Look at Neurotrophic Keratitis—Ensuring Timely Diagnosis and Taking Early Action
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Cases and Conversations™: Applying Guidelines to Practice for the Management of Paroxysmal Nocturnal Hemoglobinuria
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(COPE) Community Practice Connections™: A Closer Look at Neurotrophic Keratitis—Ensuring Timely Diagnosis and Taking Early Action
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Advances In™ Generalized Myasthenia Gravis: Improving Patient Outcomes Through Early Diagnosis and Management
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EGPA: Highlighting the Patient Journey to Improve the Differential Diagnosis and Accelerate the Initiation of Guideline-Based Care
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Burst Expert Illustrations & Commentary™ : Visualizing the Role of the Complement Proteins in Neurologic Disorders
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Burst Expert Illustrations & Commentary™: Visualizing the Role of the Complement Pathway in Neurological Disorders
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‘REEL’ Time Patient Counseling™: Navigating the Complex Journey of Diagnosing and Managing Fabry Disease
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Burst Expert Illustrations & Commentary™: Visualizing the Implications of Anti-Complement Therapies on Generalized Myasthenia Gravis
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Clinical ShowCase™ in ALS: Addressing Diagnostic Delays, Evolving Therapies, and Multidisciplinary Care
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Improving Outcomes in Autoimmune Hemolytic Anemias at the Intersection Between Hematology and Oncology Care
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Oncology Consultations®: Community and Academic Perspectives on PNH Management – How Do You Do It?
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Expert Illustrations & Commentaries™: Exploring the Role of Novel Agents for the Management of IgA Nephropathy
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Alnylam Partners with hATTR Amyloidosis Families for New Book, Website
March 13th 2018This morning, Alynylam Pharmaceuticals, Inc. has announced the Bridge the Gap initiative in which it will partner with a family affected by hATTR amyloidosis for a new book. The initiative, called , will allow the family that has lived with the rare disease for generations to share its personal accounts. The book is titled “Living a Rare Life,” and can be found, along with other educational content, at hATTRBridge.com.
Regeneron to Make Alirocumab More Accessible After Data Shows Reduced Risk and Death Rate
March 12th 2018On the heels of announcing that the Odyssey Outcomes trial met its primary endpoint, Regeneron and Sanofi are ensuring more affordable and timely access to patients who need alirocumab (Pralutent Injection).
Biotech CEO Stresses Patient Involvement in Clinical Development at Rare Disease Day Event
March 9th 2018On March 5, at the New Jersey Rare Disease Day event, hosted by the New Jersey Rare Disease Alliance, John Maslowski, CEO of Fibrocell Science, sat down with Rare Disease Report to discuss clinical development.
Pregnant Gaucher Disease Patients Can Safely Continue Enzyme Replacement Therapies
March 8th 2018Data presented at the WORLDSymposium meeting in San Diego last month and published in the clinical journal Molecular Genetics and Metabolism concludes that pregnant women receiving enzyme replacement therapy (ERT) for Gaucher disease can continue taking it.
Phase 3 Results Reveal Combination Therapy Does Not Improve Overall Survival in Glioblastoma
March 8th 2018Top-line results from the pivotal Phase 3 GLOBE study of ofranergene obadenovec in combination with bevacizumab in patients with recurrent glioblastoma were reported today, and the study did not meet its primary endpoint of overall survival.
Rare Disease Report Strategic Alliance Partner Publishes Syngap-1 Paper
March 7th 2018Monica Weldon, CEO, President and Founder of Bridge the Gap: SYNGAP Education and Research Foundation – one of Rare Disease Report’s Strategic Alliance Partners (SAP) – has made her debut as the lead author on a scientific paper.
Positive Topline Results Released from Study of Gene Therapy in OTC Deficiency
March 7th 2018Ultragenyx Pharmaceutical, Inc. released positive long-term safety and efficacy data from the first dose cohort of the Phase 1/2 study of DTX301. The investigational AAV gene therapy, is intended for the treatment of OTC deficiency.
Perlara, Harvard, Undiagnosed Diseases Network to Research Neurodevelopmental Disorders
The drug discovery platform company, Perlara, has joined forces with Harvard Medical School and the Undiagnosed Diseases Network to launch PerlQuests for two rare neurodevelopmental disorders, Coffin-Lowry syndrome, caused by a mutation in the RPS6KA3 gene, and GNAO1 encephalopathy.
Nightstar Announces Phase 3 Trial for NSR-REP1 in Choroideremia Patients
After successful outcomes were observed during the Phase 1/2 clinical trials, Nightstar Therapeutics has announced the initiation of their STAR Phase 3 registrational trial evaluating the safety and efficacy of NSR-REP1, a therapy for choroideremia patients.