Takeda Announces Creation of the Rare Disease Clinical Activity Protocols (Rare-CAP) program

A Five-year Commitment From Takeda Will Help Children’s National Launch a First-of-its-Kind Rare Disease Clinical Protocol Program WASHINGTON, DC and CAMBRIDGE, MA, March 1, 2021 — Children’s National Hospital and Takeda Pharmaceutical Company Limited (“Takeda”) announced the creation of the Rare Disease Clinical Activity Protocols (Rare-CAP) program, which will establish a networked system for the… Read More »

AVROBIO Receives Orphan-Drug Designation from FDA for AVR‑RD‑02

AVROBIO announced that the U.S. Food and Drug Administration (FDA) has granted orphan-drug designation for Avrobio’s investigational gene therapy, AVR-RD-02, for the treatment of Gaucher disease. Dr. Birgitte Volck says in the news release: “Under the existing standard of care, patients with Gaucher disease are bound to a lifelong infusion schedule of enzyme replacement therapies,… Read More »

Prevail Therapeutics Announces Investigational New Drug Trial for Parkinson’s Disease

U.S. Food and Drug Administration (FDA) has accepted Prevail’s Investigational New Drug (IND) application for its lead gene therapy program, PR001. PR001 is a potentially disease-modifying, single-dose, AAV9-based gene therapy being developed for the treatment of Parkinson’s disease patients with a GBA1 mutation (PD-GBA).  Read the full press release:

NGF Mourns Loss of Rosina Papantonio

The NGF is profoundly saddened by the recent passing of Rosina Papantonio. Rosina was the Marketing Director at the NGF from 1999 – 2015. Her heartfelt dedication to the Gaucher community was steadfast. She had many strong connections to those within the community and strove to ensure her efforts benefitted as many as possible. The… Read More »

Chart Your Own Course: A Scholarship Program for the LSD Community

What Is Chart Your Own Course? Chart Your Own Course program is an educational scholarship program established by Sanofi Genzyme in 2013 to help students in the lysosomal storage disorder (LSD) community pursue their educational dreams. The fifth annual, 2017, Chart Your Own Course application period is now open. An independent review committee will select… Read More »

FDA Approves 23andMe Genetic Health Risk Reports

Earlier this month, 23andMe, the leading personal genetics company, announced that the FDA has given authorization for the company to market genetic reports on personal risk for certain diseases. This authorization includes reports on late-onset Alzheimer’s disease, Parkinson’s disease, hereditary thrombophilia, and others. Included in these reports is a test for GBA, the gene related to Gaucher… Read More »

Parkinson’s Progression Markers Initiative

Be Part of the Genetics Research Revolution People with Gaucher disease and those with Parkinson’s disease (PD) can share a common link: mutations in the GBA gene. Identifying and evaluating people who carry a GBA mutation, whether they have Gaucher or PD or are related to someone living with one of these diseases, is vital… Read More »

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease

Medical Advisory Board member, Dr. Ellen Sidransky, recently published an article on the relationship between Gaucher disease and Parkinsonism. Read the full article below. Click here >>

Sanofi Initiates Phase 2 Clinical Trial to Evaluate Therapy for Genetic Form of Parkinson’s Disease

CAMBRIDGE, Mass.–(BUSINESS WIRE)–Sanofi Genzyme, the specialty care global business unit of Sanofi, today announced the start of a Phase 2 trial of an investigational oral therapy for patients with Parkinson’s disease who carry a single copy of a gene mutation that is the most common genetic risk factor for the disease. The trial will assess the… Read More »

Shire VPRIV Gaucher study

Are you an adult 18 – 65 years of age who has been diagnosed with Gaucher disease and are not currently receiving treatment (within the past 12 months)? If so, there is a new research protocol enrolling participants that may be for you. The research focuses on the possible improvement in bone involvement associated with… Read More »

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