BioPontis Alliance for Rare Disease and the Hereditary Neuropathy Foundation (HNF), both philanthropies, announced today the creation of a joint venture to develop drug candidates for the treatment of the rare disease known as Charcot- Marie-Tooth (CMT) Disease.
BioPontis Alliance announced its alliance model earlier this month. Today’s partnership announcement with HNF is a first demonstration of a collaborative model where researchers and all CMT dedicated organizations can come together for a common cause – treatments.
My name is Elizabeth Francisco and I am a graduate student from the Genetic Counseling program at the University of North Carolina Greensboro. I am inviting you to participate in a research study. The goal of my study is to learn more about the experiences of people with Charcot-Marie-Tooth (CMT) with genetic counseling and genetic testing. Adults with CMT and parents or legal guardians of someone of any age who has a diagnosis of CMT are eligible to participate
HNFpharnext recently entered into a partnership with the French biopharmaceutical company, Pharnext, to help raise awareness of Charcot-Marie-Tooth (CMT) disease and support the CMT patient community through several initiatives. Building awareness is key! Pharnext’s support will assist HNF in distributing HNF’s CMT Update quarterly newsletter, enhancing the Global Registry for Inherited Neuropathies (GRIN), setting up activities for CMT September Awareness Month in the US and strengthening the CMT Inspire Community.
Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal.
Did you know that you can become part of a community in therapy development and further research for all forms of CMT and inherited neuropathies? The mission of the Global Registry for Inherited neuropathies (GRIN) is to collect clinical and genetic information from patients with ALL forms of Charcot-Marie-Tooth (CMT) and other related rare and ultra rare inherited neuropathies.
Research on CMT is global, and covers both laboratory and clinical studies. It is critically important to be aware of what is happening elsewhere as well as in the USA because it can have implications for what we do and fund at the HNF.
It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy.
If we are to learn more about CMT and the effectiveness of rehabilitation it is worth asking the patient and their caregiver. A recent Italian study by Padua et al recently described a survey of CMT patients and caregivers and their perspectives and perceptions of rehabilitation efficacy and needs.
HNF’s CSO (Chief Scientific Officer), Sean Ekins wrote a blog about his work with Allison Moore and her two “fighter Mom” friends Lori Sames and Jill Wood. He named his blog: “Rare disease heroes – Extraordinary collaborators we should be listening too.” Sean helped my friends and I write a paper called: “Multifaceted roles of ultra rare and rare disease patients/parents in drug discovery.” YES, Allison Moore is going to be published! It will be in Drug Discovery Today, soon. The link to the reprint is below.