News

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.

The fall of 2017 brought the approval of new gene therapies, and could usher in a new area of personalized medicine.

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 new study finds clinical and economic advantages to the use of a multi-pronged pain management approach after surgery.

Long-term use of nonsteroidal anti-inflammatories may decrease the risk of developing age-related macular degeneration.

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.

The tests can distinguish Babesia microti antibodies in plasma samples, and the in whole blood samples.

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.

From July 2016 through September 2017, opioid overdoses have increased 35% in the CDC’s Enhanced State Opioid Overdose Surveillance's 16 participating states.

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 therapy is currently approved for use by adults with bipolar depression and for the treatment of schizophrenia in patients aged 13 and older.

The expanded approval of the heart valve makes it the smallest mechanical heart valve approved in the world, a size small enough to be used in newborn pediatric patients to treat heart defects.

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.

Non-opioids fared better for patients with chronic back pain, or hip or knee osteoarthritic pain, in a 12-month study.

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 updated guidelines state that patients should be treated to achieve A1C levels between 7% and 8%.

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.

If approved, prucalopride will be the only readily available 5-HT4 agonist in the US for CIC in adults.

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).

A new study finds new HIV testing options aren’t reaching the entirety of the high-HIV-risk population, in part due to a lack of knowledge and access.

Brief school-based interventions can be utilized to improve the homework problems of middle school students with ADHD.

Relapsing multiple sclerosis drug is removed from the market following reports of 8 cases of brain inflammation.

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

Remoxy ER is a thick, sticky, high-viscosity capsule formulation designed to deter abuse via injection, snorting and smoking.