Mathew Shanley

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

Jersey Mike’s Subs kicked off the “Month of Giving” campaign by inviting 22q11 deletion syndrome patient Claudia and revealed they'd fly her to California so she could attend a teen awards show.

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.

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.

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

In observance of World Rare Disease Day, the U.S. FDA has announced a collaboration with NORD, in which a pilot project would assist medical reviewers in better understanding rare disease patient experiences.

Data from a Phase 2 trial of galinpepimut-S (GPS) in acute myeloid leukemia (AML) have been published in the current issue of the peer-reviewed medical journal Blood Advances.

Thanks to an outpouring of support from the congenital muscular dystrophy (CMD) community over the past year, Cure CMD was able to announce new grant funding for 2018-2019.

Data recently published in the Orphanet Journal of Rare Diseases showed that long-term improvements and stability can be achieved with taliglucerase alfa in patients with Gaucher disease.

15-year old biliary atresia patient Jarrius Robertson will be honored by the WWE. At the 2018 WWE Hall of Fame Induction Ceremony on April 6, he will become the fourth recipient of the Warrior Award.

Positive outcomes were reported from a biomarker study evaluating intracellular glycosaminoglycans (GAGs) levels in leukocytes as a disease activity biomarker in MPS VI.

Last week in Nature, data were published revealing that AD-114, a locally developed molecule, could be a therapeutic option for patients with idiopathic pulmonary fibrosis.

This morning, Children’s National Health System and Horizon Pharma plc have announced the creation of the Horizon Pharma Clinical Care Endowment at the Children’s National Rare Disease Institute.

The Committee for Medicinal Products for Human Use of the EMA recommended that both Mylotarg (gemtuzumab ozogamicin) and Bosulif (bosutinib) be reviewed separately by the European Commission.