RDR Alert®

Abeona announced that the U.S. FDA has granted rare pediatric disease designation to ABO-202, a gene therapy in development for the treatment of infantile and late infantile-onset Batten disease.

The U.S. FDA has approved hydroxycarbamide/hydroxyurea tablets in pediatric patients suffering from sickle cell anemia, ages two years and older, France-based Addmedica has announced.

The U.S. FDA has placed a Clinical Hold on the IGNITE DMD Phase 2/3 trial for SGT-001 microdystrophin gene transfer in Duchenne muscular dystrophy, Solid Biosciences Inc. has announced.

Results from the Phase 3 PERSIST-2 clinical trial of the investigational JAK2 inhibitor pacritinib have been published online in The Journal of the American Medical Association (JAMA) Oncology.

World-renowned Cambridge University physicist and best-selling author Stephen Hawking died at his home in England early this morning. He was 76 years old.

Jupiter Orphan Therapeutics has submitted the first of the several highly anticipated investigational new drug applications for potential therapies that utilize Jotrol, its platform product.

Teva Pharmaceuticals, the HDSA, and the ALS Association are partnering for the Teva CNS Target Identification Challenge, a crowdsourcing effort to seek novel targets with therapeutic potential.

The Medical College of Wisconsin has received clearance from the U.S. FDA for the previously unannounced IND application for the Phase 1 trial of a combination therapy for relapsed or refractory AML.

This 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.

Interim clinical data from the ongoing BP-004 trial suggest that BPX-501 reduces cancer recurrence rates in pediatric patients with acute myeloid leukemia and primary immunodeficiencies.

Anaya Mitchell was diagnosed with myasthenia gravis (MG) in the Summer of 2013. She was 13 years old. In this video, describes the challenging road she had on her way to diagnosis.

A February 2018 Type C meeting between Sarepta Therapeutics, Inc. and the Division of Neurology Products of the U.S. FDA was held to solicit the Division’s guidance on the development pathway for Sarepta’s golodirsen (SRP-4053).

On 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).

Results from a global market research survey on phenylketonuria were presented, and concluded that patients’ adherence to currently prescribed supplements is a significant issue.

It was recently revealed that a newly-discovered biochemical pathway could assist scientists develop new ways to protect cells against the oxidative stress that is commonly associated with Huntington’s disease.

Paul Melmeyer, Director of Federal Policy for the National Organization for Rare Disorders (NORD) wants to do his part to ensure that the proper choices are being made on behalf of people affected by rare diseases.

A historic meeting will be held on April 6 when the FDA will host a joint Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting with Debra of America and the Pachyonychia Congenita Project.

On 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.

Data 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.

At the Society for Inherited Metabolic Disorders Annual Meeting in San Diego next month, HemoShear Therapeutics will unveil the first human tissue-based model of Maple Syrup Urine Disease (MSUD).

Top-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.

A study recently published in the Orphanet Journal of Rare Diseases concludes that, since people with hemophilia (PwH) often suffer from impaired motoric skills due to bleedings, sports therapy is helpful to better the reduced function.

Monica 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.

Protagonist Therapeutics has announced that the U.S. FDA granted Orphan Drug Designation to PTG-300. PTG-300 is a sub-cutaneous injectable hepcidin mimetic for the treatment of beta-thalassemia.

Ultragenyx 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.

The U.S. FDA has approved ibalizumab-uiyk (Trogarzo), developed by TaiMed Biologics and intended for adults with HIV.

One month after Fibrocell submitted an Investigational New Drug application with the U.S. FDA for FCX-013, the application for the gene therapy to treat scleroderma was granted allowance.

The design for Phase 3 clinical trial to evaluate GMI-1271 in combination with MEC or in combination with FAI in individuals with relapsed/refractory AML was revealed by GlycoMimetics yesterday.

The first patient was diagnosed in Bioverativ’s Phase 3 clinical program of the investigational therapy BIVV009 for the treatment of cold agglutinin disease (CAgD).

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.