RDR Alert®

Parent Project Muscular Dystrophy announced that the first patient with Duchenne muscular dystrophy has been dosed with microdystrophin gene therapy.

A study published this week in the Orphanet Journal of Rare Diseases confirmed the importance of genetic findings in the diagnosis of Marfan syndrome.

Faron Pharmaceuticals announced this morning that the U.S. FDA has approved the Investigational New Drug application for Traumakine (FP-1201-lyo) for the treatment of Acute Respiratory Distress Syndrome.

The ipsogen JAK2 RGQ PCR Kit received clearance from the U.S. FDA for additional use in the diagnosis of all myeloproliferative neoplasms.

On his personal website Monday, legendary musician Neil Diamond revealed that he has been diagnosed with Parkinson’s disease.

BERG announced this morning that the U.S. FDA has granted orphan drug designation to the company’s leading product candidate BPM31510 (ubidecarenone) for the treatment of pancreatic cancer.

This morning, Sobi, announced that the FDA has issued a Study may proceed letter for the first study in humans, thereby accepting the investigational new drug application for sobi003, and the regulatory agency granted Fast Track status to the product candidate.

Marshall Summar, M.D., director of the Children’s National Rare Disease Institute, sat down with Rare Disease Report to discuss recent news and what it means for the rare disease community.

Regeneron has announced that Dupixent, a therapy for adult atopic dermatitis (AD) that is inadequately controlled by existing medications, has been granted marketing and manufacturing authorization in Japan.

To kick off the new year, Alnylam Pharmaceuticals, Inc., a company dedicated to the development of RNAi therapeutics, announced the expansion of its Alnylam Act.

The U.S. FDA approved the company’s Investigational New Drug application for initiation of two Phase 3 clinical trials of dasiglucagon in treating congenital hyperinsulinism.

uniQure was granted Orphan Medicinal Product Designation from the European Medicines Agency for AMT-130, an investigational gene therapy for the treatment of Huntington’s disease.

Enzychem Lifesciences has announced that EC-18, a potential therapy for Acute Radiation Syndrome, has been granted Orphan Drug Designation by the U.S. Food and Drug Administration.

Engineers from the Engineering Faculty at the University of Sheffield and Boston Children’s Hospital, Harvard Medical School have created a robot with the intention of esophageal atresia .

Arimoclomol, in development by Danish biotech Orphazyme A/S for the treatment of Niemann-Pick Disease Type C, was granted rare pediatric disease designation by the U.S. FDA this morning.

New research published in Annals of Internal Medicine shows that the rate of arterial and venous thrombosis was significant in patients with myeloproliferative neoplasms (MPNs).

In 2018, uniQure N.V. expects to advance the clinical development of AMT-130, its investigational gene therapy for the treatment of Huntington’s disease.

Last night, the U.S. FDA approved the supplemental New Drug Application to add overall survival data from the Phase 3 head-to-head ENDEAVOR trial to the Prescribing Information for Kyprolis (carfilzomib).

An orphan drug designation request for Vitality Biopharma’s prodrug VITA-100, a cannabinoid that treats pediatric ulcerative colitis, has been sent to the U.S. FDA.

Emmaus Life Sciences has announced that Endari, a medication developed to reduce acute complications in patients with sickle cell disease, is now available by prescription in the United States.

In this Rare Connections program, Martha Raymond; Founder of the Raymond Foundation, Executive Director of Michael’s Mission, and the Co-Chair of the GI Cancers Alliance meets with Sarah Bennett, a cholangiocarcinoma survivor to highlight the space.

This morning, Novartis was granted U.S. FDA Priority Review for the drug in patients with relapsed or refractory diffuse large B-cell lymphoma who are ineligible for or relapse after autologous stem cell transplant (ASCT).

The FDA has accepted for review supplemental Biologics License Application for Ruconest for routine prophylaxis to prevent attacks in adult and adolescent patients with hereditary angioedema, Pharming Group N.V. reported this morning.

Ipsen and Exelixis, Inc. announced detailed results of the pivotal phase 3 CELESTIAL trial, evaluating cabozatinib in previously treated patients with advanced hepatocellular carcinoma.

NORD, the leading nonprofit organization dedicated to helping Americans with rare diseases, announced this morning that its 7,000 Mile Rare Movement will be kicking off this year’s celebration.

In this Rare Connections program, Martha Raymond; Founder of the Raymond Foundation, Executive Director of Michael’s Mission, and the Co-Chair of the GI Cancers Alliance meets with Sarah Bennett, a cholangiocarcinoma survivor to highlight the space.

This morning, Novartis announced that the U.S. FDA has accepted its Biologics License Application for the proposed biosimilar adalimumab to the reference medicine, Humira, developed by AbbVie, Inc.

Today, Eiger BioPharmaceuticals announced that results from the Phase 2 LIBERTY study demonstrated no improvement overall in its Phase 2 PAH treatment study, evaluating the effects of ubenimex.

Researchers at St. Jude Children’s Research Hospital have developed a new gene therapy that creates fully-functioning immune systems in babies diagnosed with severe combined immunodeficiency, commonly referred to as the “Bubble Boy” disease.

NORD's Voice of the Community - January 2018