Is it just coincidence, being in the right place at the right time, or is it synchronicity? Synchronicity, as defined by Wikipedia: “The idea of synchronicity is that the conceptual relationship of minds, defined as the relationship between ideas, is intricately structured in its own logical way and gives rise to relationships that are not casual in nature.” Nearly a year ago, Allison Moore, HNF Founder, and Lori Sames, Co-Founder of Hannah’s Hope Fund (HHF), met at the World Orphan Drug Conference in Washington, D.C. when Lori set her plate down on the high cocktail table across from Allison. From this day forward, Allison and Lori talk as often as they do with their siblings, sometimes even more so!
Lori Sames and her husband Matt formed Hannah’s Hope Fund (HHF) following their youngest daughter’s diagnosis of Giant Axonal Neuropathy (GAN) in 2008. GAN is the most rare, and one of the most severe, forms of Inherited Neuropathy. GAN is fatal in the late teens or early 20′s. HHF has funded the development of GAN gene therapy to the central nervous system and hope to begin a Phase 1 trial this year. The goal is to stop the progression of GAN in the central nervous system. HHF is also working to discover a small molecule drug to treat the peripheral nerves. GAN is classified as an inherited neuropathy, similar to some of the forms of CMT Type 2′s, and the cellular models of GAN will eventually be used to help test efficacy of CMT Type 2 candidate therapeutics. Likewise, potential therapeutics discovered for GAN will be tested on CMT Type 2 models. HNF has developed a CMT Type 2A mouse model which will be used when targets are identified. The reason this collaboration is so critical is because compounds that are discovered to improve axonal transport are likely to be beneficial to most forms of CMT Type 2. The more disease models we are able to show efficacy in, the greater the likelihood for federal grants and additional therapeutic strategy approaches.
Recent unpublished data reveal the protein not functioning in GAN, called gigaxonin, directly regulates intermediate filament proteins. Intermediate filament protein aggregates are implicated in a few forms of CMT, as well as Lou Gehrig’s Disease (ALS). We are happy to have a new team of scientists collaborating with HNF’s scientific team as we continue to discover more data, identify existing small molecules & vectors and optimize our dollars to cure CMT Type 2.
This year HNF and HHF are co-funding the Global Patient Registry for Inherited Neuropathies, which is clinically focused, unlike existing registries. The goals of the clinical registry are: collect information and tissue samples needed by the research community; assist in getting patients properly diagnosed with their specific form of inherited neuropathy; and recruitment for clinical trials.
When Allison first me Lori, she drawn to her determination in learning the science and putting the destiny of her daughter and many others in her own hands by demanding treatments and scanning the world for maybe not the obvious. There has to be a way, she said, and “I’m so happy to meet another FM”. “FM?” I asked. Lori explained, “Fighter Mom’s,” as in mothers with children who are living with these conditions. Now a year later both Allison and Lori spend countless days and hours meeting scientists, Big Pharma, BioTech, NIH staff, sitting on panels at conferences to share their organizations’ mission, researching business models and the most effective approaches to engaging industry, initiating collaborations, and most importantly, not taking no for an answer. CMT and all other related inherited neuropathies need attention and treatments. These two women are on a mission to cure these diseases!