RDR Alert®

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.

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.

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.

The Manton Center for Orphan Disease Research at Boston Children’s Hospital and Alexion Pharmaceuticals aim to increase the accuracy and precision of diagnosing pediatric rare disease patients.

FDNA has launched the global Genomics Collaborative, a group of collaborative research efforts focused on using computational techniques and phenotypic data to analyze human genetics.

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.

In this video, Stephen Spaulding, M.A., Director Of Care Services for the ALS Association Greater Philadelphia Chapter, discusses how certain science and drugs can apply to more than one patient population.

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.

George Yohrling, Ph.D., Senior Director of Mission and Science at the HDSA discusses the challenges that come with working with patients with HD, and communicating with their family members and caregivers.

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.

On Rare Disease Day 2018, Shire plc will focus on promoting prompt diagnosis of rare diseases, as it is the most important issue affecting health, longevity and well-being for patients and their families..

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

The National Center for Advancing Translational Sciences and the National Institutes of Health Clinical Center will honor World Rare Disease Day this year by hosting an event to celebrate patient advocacy.

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.

Fortress Biotech and its subsidiary Aevitas Therapeutics have entered into a sponsored research agreement with Dr. Guanping Gao’s laboratory at the University of Massachusetts Medical School.

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.