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The Rare Disease Foundation as an Accelerator of Research

March 3, 2016
The Hereditary Neuropathy Foundation (HNF) was founded in 2001 by Allison Moore after she was diagnosed with Charcot-Marie-Tooth (CMT) disease. Many rare disease patients and parents either join or start a foundation while many others suffer in silence. Allison resolved to do the former, and set out to get the research on the disease moving. This led her to develop the Therapeutic Research in Accelerated Discovery (TRIAD) as a collaborative model with academia, government, and industry, enabling funding of key research priorities for many forms of the disease. HNF has since funded research in the USA, UK, and Germany. HNF also plays a critical role in advising companies that come to the organization looking for knowledge on who are the key opinion leaders for the disease.

Over the decades, there has been a huge shift in how patients work with scientists and how scientists collaborate with each other, but there is still much to do, to educate researchers, clinicians, companies, and of course patients, about rare diseases. Foundations like HNF are literally acting as the glue that holds the patient and the scientific communities together.TRIAD

As a small, patient-driven rare disease foundation, we have a vested interest in the outcomes and an urgency to make things happen. We do not have unlimited resources, so we have to be smart and nimble about investing in science, relying on our scientific advisory board and the scientists in our network to help us make sound decisions. Admittedly, it has been a challenge to figure out the “model” that works. Everyone has to benefit and have some, skin in the game: the researcher needs funding, the clinician requires access to patients, funding, and treatments, while companies need to see a return on their investment.

Several recent efforts have started to catalyze heightened interest in CMT. We developed a relationship with a small pharmaceutical company that allows us to advise them on how to set up their most recent clinical trial, including selecting clinical centers and investigators.   This trial is an international multi-center, randomized, double blind, placebo-controlled, three-arm Phase 3 study which will enroll patients aged 16 to 65 with mild to moderate CMT1A. If this trial is successful, it could lead to a regulatory filing for the first therapeutic treatment for the disease. This is an advanced clinical effort and it has awoken the interest of other companies – many of which have been in touch with us since the announcement – that might have potential treatments. Several years ago it was almost impossible to find a company interested in developing a drug or treatment of any kind for CMT. But that has changed and there is no going back.

We are also closer to the research coming out of the lab, so when a new animal model or research finding is published, we move as fast as we can to connect to the researchers involved. We recently entered into a three-way collaboration between an academic institution, a pharmaceutical company, and HNF in an effort to  bring clinical stage molecules to the researcher to evaluate if there might be potential for a CMT treatment.

Since the launch of this partnership, more companies reached out to us. As progress is made on initiating preclinical or clinical research, others want to help or bring assets to our attention. Any efforts that enable us to do what we do best connecting the scientists, companies, and patients   can further accelerate research and bring treatments to the patient.

Editor’s Note: Throughout the week of Rare Disease Day 2016, BIO will be profiling stories of those affected by rare diseases, shedding light on these diseases and the families impacted by them.  America’s Biopharmaceutical companies are working on treatments of these and many other diseases.  For more information visit