Rare Disease Report®

Audentes Therapeutics has initiated the first patient dosing of VALENS, a Phase 1/2 clinical trial of a potential treatment for Crigler-Najjar syndrome called AT342.

Xeris announced this morning that the U.S. FDA has granted Orphan Drug designation to the ready-to-use, liquid-stable glucagon for the treatment of Hyperinsulinemic Hypoglycemia

Teva has announced the release of a generic version of Syprine (trientine hydrochloride) capsules, 250 mg, as a substitute treatment for patients with Wilson’s disease in the United States.

The International Foundation for Functional Gastrointestinal Disorders will participate in Rare Disease Day on February 28, with efforts to support patients affected by a rare digestive disease globally.

Abeona Therapeutics, Inc. announced that the FDA has granted Orphan Drug Designation to its ABO-202 program for the treatment of infantile Batten disease.

Amicus announced that the U.S. FDA has accepted its New Drug Application submitting for filing under priority review for migalastat for the treatment of patients with Fabry disease with amenable mutations.

With no real standard-of-care for Sanfilippo syndrome patients, Brian Bigger, Ph.D., discusses the sense of urgency he and his colleagues feel while researching.

BioMarin presented interim data at the 14th Annual WORLDSymposium in San Diego from a Phase 1/2 trial for BMN 250 in MPS IIIB.

ArmaGen reported full 52-week results from a Phase 2 proof-of-concept study with AGT-181 in MPS I.

Rare Disease Report sits down with Simon Heales, Ph.D., Professor of Clinical Chemistry at Great Ormond Street Children’s Hospital in London who discusses a potential link between Gaucher disease and Parkinson’s disease.

Novo Nordisk has announced that their hemophilia B treatment, Rebinyn, is now available in the United States.

A collaborative research effort between the National Institute on Aging (NIA), the National Institutes of Health (NIH), and ChromaDex has found Niagen effective in preventing neurological damage and improving cognitive and physical function in a mouse model of Alzheimer’s disease.

Sanofi Genzyme presented results from the Phase 1/2 trial, showing consistent safety data for the investigational avalglucosidase alfa in late-onset Pompe disease.

The Amplify Hope Study, sponsored by the Rare Genomics Institute, analyzed the effects of educating families affected by rare disease on how to effectively crowdfund to pay for necessary genetic testing.

Amicus presented additional positive results from the company’s Phase 1/2 clinical study of ATB200/AT2221 in patients with Pompe disease in a late-breaker poster and a corresponding oral presentation.

Today at the WORLDSymposium in San Diego, Valerion Therapeutics presented initial results from the first cohort of its ongoing Phase 1/2 clinical study of VAL-1221 in patients with late-onset Pompe disease.

At the 14th Annual WORLDSymposium, interim data from two open-label studies were presented, exhibiting a 3-year survival estimate of 68% in infants with rapidly progressing LAL-D treated with sebelipase alfa.

The United States and India are joining forces to engage the rare disease community in honoring International Rare Disease Day and the millions of patients around the world.

Children’s Hospital Los Angeles (CHLA) has announced that it will be participating in a new clinical trial with the hopes of improving quality of life (QOL) outcomes for children with hypoplastic left heart syndrome (HLHS), a congenital heart defect in which the left ventricle is severely underdeveloped.

The FDA has granted Breakthrough Therapy Designation to Zogenix’s drug ZX008, a therapy intended to treat seizures associated with Dravet syndrome.

The infographic on this page will take you from the inception of Rare Disease Day to present day.

The U.S. FDA has granted Capricor Therapeutics RMAT designation for its lead investigational cell therapy for the treatment of Duchenne muscular dystrophy, CAP-1002.

Jupiter Orphan Therapeutics announced this morning that it intends to submit an Investigational New Drug application to the U.S. FDA for Jotrol in MPS I, among other indications, within the next few weeks.

Fibrocell Science announced the submission of an Investigational New Drug Application with the U.S. FDA for FCX-013, a gene therapy candidate for the treatment of moderate to severe localized scleroderma.

The director of the Ara Parseghian Medical Research Fund promoted the organization’s new initiatives to raise money for NPC1 research during an address to Notre Dame’s student senate this week.

Yesterday, nonprofit organization BioPontis Alliance and Massachusetts General Hospital, the largest hospital-based research program in the United States, announced an agreement to target new treatments for Huntington’s disease.

New research suggests that there could be a possible connection between CTE and ALS.

Shaquem Griffin, rare disease survivor and linebacker for the University of Central Florida football team, has received an invitation to the NFL combine.

Alnylam has announced this afternoon that the U.S. FDA has accepted for filing its New Drug Application for patisiran, an investigational RNAi therapeutic targeting transthyretin for the treatment of hATTR amyloidosis.