RDR Alert®

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.

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.

Prometic Life Sciences has been granted Rare Pediatric Disease Designation by the FDA for its potential Inter-Alpha-Inhibitor-Proteins (IaIp) therapy for the treatment of necrotizing enterocolitis (NEC).

The American Journal of Pathology published a paper detailing the activity of the mechanism of action PBI-4050 in IPF.

Myasthenia gravis can be difficult to diagnose, and in this video, Beth Stein, M.D., Chief of Neurology at St. Joseph’s Regional Medical Center, discusses why the disease course makes it that way.

Ionis Pharmaceuticals reported positive top-line data from a completed Phase 1/2 study of RG6042 (Ionis HTTRx) in people with early stage Huntington’s disease .

In a panel at Rare Disease Day at the NIH, a panel discussed how younger rare disease patients can support research through social media and modern technology.

Rigel Pharmaceuticals announced that data from its FIT Phase 3 extension study of fostamatinib in patients with chronic ITP will be presented at the Biennial Summit of the Thrombosis and Hemostasis Societies of North America.

In a panel at Rare Disease Day at the NIH, Marshall Summar, M.D. served as the moderator for a panel about collaborating for rare disease research.

One week after Vertex Pharmaceuticals Incorporated initiated its first Phase 3 study of VX-659, tezacaftor and ivacaftor regimen for people with cystic fibrosis, the company has announced it is initiating a second.

Spruce Biosciences has announced the launch of the CAH Natural History Study, an initiative to advance knowledge and awareness of congenital adrenal hyperplasia.

Biopharmaceutical company Incyte has partnered with Academy Award winning filmmaker Cynthia Wade to develop a series of short documentary films to raise awareness for MPNs.

A $2.8 million Fast Track Small Business Innovation Research (SBIR) grant has been awarded to PhaseBio Pharmaceuticals from the National Institutes of Health (NIH) to support the clinical development of PB1046 in treating patients with pulmonary arterial hypertension (PAH).

These quotes come from respected, well-known personalities working within the rare disease community, and stress the importance of continued funding, research and collaboration.