Welcome to the Global Registry for Inherited Neuropathies! The goal of the registry is to collect clinical and genetic information on patients diagnosed with the various forms of hereditary neuropathies in order to advance therapy development for these debilitating disorders. This registry is co-funded by the Hereditary Neuropathy Foundation (HNF) and Hannah’s Hope Fund for Giant Axonal Neuropathy (GAN). The Founders of these two charities met at the World Orphan Drug Conference in 2012, and vowed to collaborate and make a significant impact on the quality of your life. We feel your urgency! We, and many others have loved ones with devastating hereditary neuropathies and urgently need treatments for the more than 60 forms of hereditary neuropathy, all of which do not have FDA approved treatments.
Since October of 2008, Hannah’s Hope Fund (HHF) has funded GAN gene delivery to the central nervous system, and a Phase 1 clinical trial is slated to begin in 2013. With advances in gene editing technologies, it is now extremely important to receive a genetic diagnosis for your specific form on hereditary neuropathy (HN). In order to increase and accelerate research, enable clinical trials, and find effective treatments for HN, a clinical registry is needed to better understand the genotype/phenotype relationship and allow the HN community to stay connected and informed of scientist's needs for tissue samples and participation in upcoming clinical trials.
Even within families with the same form of Charcot-Marie-Tooth (CMT), the severity and symptoms can vary dramatically. Therefore, it is important to collect detailed clinical and genetic information so scientists can learn which genetic modifiers might mitigate the disease. These modifiers could become targets of future therapy development.
Knowledge is power, and it is our goal to assist all patients on the quest for a genetic diagnosis. We no longer want to hear people say, “I have CMT”. We want them to say, “I have a mutation on my NEFL gene that causes CMT2E”. Once we collect clinical information from a small group of patients with the same genetic diagnosis, we will be able to provide scientists with the information they need, and also tissue samples they may need to develop effective therapies for these debilitating disorders.
Did you know that the newly approved drug for Cystic Fibrosis (CF) only treats a specific CF mutation? Only 4% of CF patients have the specific mutation the new drug Kalydeco is effective for. This exemplifies the importance of both learning your genetic diagnosis and joining a registry so that industry can know how many patients are impacted by a particular form of HN. HN is very common when grouped together. However, individually each form of HN is rare and many forms are ultra-rare. Therapy development is very expensive, and only recently has there been interest by industry to focus on rare disorders. This registry is a tool to empower and excite industry to focus on HN, as all clinical and genetic information is centralized, and patients who may want to volunteer to participate in clinical trials can easily be notified. A biotech company is much more likely to engage in a rare disease if we can tell them we have clinical and genetic information on 1000 patients with CMT2A, and our registrants are eager to assist in therapy development by providing tissue samples, and are willing to consider volunteering in trials.
Together, we will make a difference!
Allison Moore, Lori Sames,
Founder & CEO, HNF Co-Founder, HHF