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Patients Suffering from Gaucher's Disease Deserve Better

September 8, 2014
Gaucher Disease is one of the over 6,000 rare diseases that affect patients worldwide, representing a frontier of unmet medical need [NCATS, NIH]. The challenges for drug development generally—long and costly research and development timelines—are exacerbated by the inherently small patient populations affected by rare diseases. These patients can be difficult to identify and geographically dispersed and their clinical presentation can be quite disparate, complicating the design and recruitment for clinical trials used to determine the safety and efficacy of a therapy before it is allowed onto the market.

But these patients should not lose hope: progress may be slow, but it is not nonexistent. In fact, recently, a drug was approved for the treatment of Gaucher’s Disease, which is a rare genetic disorder that affects approximately 6,000 people in the U.S.

Gaucher is an inherited, autosomal recessive disease that occurs when a lipid – glucosylceramide – accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain causing chronic fatigue and easily fractured bones in the most common Type 1 form of the disease.

Lipid accumulation interferes with normal functioning of the organs in which it accumulates. For example, lipid accumulation in bone marrow interferes with the production of the platelet cells required for successful blood clotting, leading to bleeding and bruising. The production of the oxygen-carrying red blood cells is also impacted, leading to chronic fatigue and anemia. (source: National Gaucher Disease Foundation)
The new drug is a small molecule inhibitor of the enzyme that produces glucocerebrosides.

If the enzyme is not produced, it will not need to be broken down. Previous treatments only helped patients who had only mild or moderate Gaucher’s, or could not tolerate infusion therapy. With its better safety and efficacy profile, the new drug has been approved as a first-line treatment.

Nevertheless, more must be done to facilitate getting innovative therapies, like this new Gaucher treatment, to patients faster. One such effort underway is the Strategic Collaborative Approach initiative between with the European Medicines Agency (EMA) and U.S. Food and Drug Administration (FDA) to improve the efficiency of drug development. In fact, BIO recently commented on the Agencies’ first draft guidance within this initiative, which specifically targeting drug development of Gaucher disease.

We expressed support for the Agencies’ approach of engaging with a diversity of stakeholders to identify mechanisms to further reduce barriers to the research and development of rare disease drugs and biologics.

For example, working with industry innovators, the Strategic Collaborative Approach could leverage joint scientific guidance to address the specific challenges of rare disease drug development—such as limited patient populations available for clinical trial participation—potentially through initiatives that employ innovative trial design and post-approval real-world data collection.

Patients suffering from Gaucher’s Disease deserve increasingly effective therapies and, one day, hopefully a cure. To advance toward this shared goal for all rare disease patients, we look forward to working with stakeholders, including these regulatory agencies, to facilitate research and drug development.