COMBINEDBRAIN HNF

First Ever Biorepository For Charcot-Marie-Tooth, HNF Launches The CMT Biobank

by | Aug 22, 2023 | 0 comments

The Hereditary Neuropathy Foundation (HNF), an advocacy and research 501c3 non-profit, today announces enhancements to their Charcot-Marie-Tooth (CMT) and Inherited Neuropathies (IN) patient registry, Global Registry for Inherited Neuropathies (GRIN). GRIN is an IRB approved, patient consented registry. This research consortium consists of researchers and clinical experts, including various partnerships globally (CMT advocacy groups, data scientists, genetic experts and industry).

CMT is a group of inherited disorders with 128 genes responsible for all the CMT subtypes, CMT1A being the most common. GRIN acquires, records, and analyzes patient-reported data, associated genetic reports, and validated, clinical CMT scales (CMTPeds, CMTInfS) to identify the burden, diagnostic journey and prevalence of disease. CMT impacts the quality of life starting in childhood and is progressively debilitating. Currently, there are no treatments, but there are many potential therapies in the pipeline. There are still gaps in understanding the natural history of the disease correlation of genotype/phenotype, the availability of patient biospecimens for translational research, and validation of drug candidates and biomarkers for CMT.

COMBINEDBrain, a non-profit with a biorepository consortium, represents and partners with 65 rare-disease advocacy groups, including HNF. The CMT Biobank is an enhancement to the GRIN consortium and will offer GRIN patient registrants the opportunity to participate in innovative and translational research to accelerate CMT therapies. The new CMT Biobank will collect and store patient samples, including blood, tissue, skin fibroblasts, Induced Pluripotent Stem Cells (iPSCs), and more!

HNF chose COMBINEDBrain as a partner for their state of art biorepository, dedicated team, and ability to quickly and efficiently fill a research gap and benefit the entire CMT research community.

“For clinical trials to be successful, targets for treatment and biomarkers must be identified. To date, there is no available biorepository of CMT samples for researchers or industry to pull from. Today, HNF has changed that and is excited to advance research and therapy development with the help of COMBINEDBrain,“ states Allison Moore, Founder/CEO HNF.

“We stick to our mission as an organization by collaborating with clinicians, scientists, and industry, and one thing they all agree on is the importance of biomarker discovery for each of these rare communities”, said Dr. Bichell, Founder of COMBINEDBrain. “One easy way to start identifying biomarkers is to collect patient samples, often blood or other biofluid, for researchers, clinicians or industry to study and advance the field of CMT/IN research for your families,” said Dr. Bichell.

For patient participation: Join GRIN:

Visit: www.JoinGRIN.org

For GRIN questions or to volunteer to provide patient samples:

Contact: [email protected]

To request patient samples and/or inquire about partnerships:

Contact: [email protected]

About Hereditary Neuropathy Foundation

The Therapeutic Research in Accelerated Discovery (TRIAD) is a collaborative effort with academia, government, and industry to develop treatments for CMT. As part of TRIAD, the Global Registry for Inherited Neuropathies (GRIN) was established as a patient registry and research consortium to advance knowledge of patient records, analyze patient-reported data, collect genetic reports and clinical CMT validated scales (CMTPeds, CMTInfS ). The data has been instrumental in identifying the burden, diagnostic journey and prevalence of CMT. In 2022, HNF launched the CMT Genie, a patient-initiated genetic testing program to support genetic diagnosis by offering patients virtual genetic counseling with an option to obtain a prescription to seek a genetic diagnosis.

For more information, visit https.www.hnf-cure.org

About COMBINEDBrain

The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) is a non-profit consortium representing more than 65 different neurodevelopmental disorders. Their mission is to expedite meaningful treatments for individuals diagnosed with these disorders by pooling together efforts across clinicians, scientists, advocates, and industry.

For more information, visit https://combinedbrain.org/

Learn more on this topic

Related Blog Posts

A New Mouse Model for Charcot-Marie-Tooth (CMT2)

We were recently informed that The Jackson Laboratory (JAX, a nonprofit biomedical research institution headquartered in Bar Harbor, Maine) had taken delivery and will be distributing a newly generated CMT-related mouse model. The new model expresses mutant mitofusin 2, a mitochondrial membrane protein involved in mitochondrial fusion and regulation of vascular smooth muscle cell proliferation.

Hot Off the Press – Potential Treatment for CMT1A

Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.

Support CMT Therapeutic Alliance

HNF has entered into a joint venture – the CMT Therapeutic Alliance – with a unique non profit organization (BioPontis Alliance for Rare Diseases) that brings professional drug discovery capabilities to translate our research results into potential treatments.

Scientific Advisory Board Meeting

Scientific Advisory Board Meeting

On the 7th of November we convened our scientific advisory board meeting at the HNF offices in NY. We have written a detailed review that has been published and captures all of the discussion and make this freely available to the scientific community.

Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth Disease Type 1A

Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth Disease Type 1A

PARIS, December 18th, 2014 – Pharnext SAS today announced the proof of concept of its pleotherapy research and development approach based on a proprietary network pharmacology platform that identifies synergic combinations of drugs already approved for other diseases. Indeed, Pharnext’s lead pleodrug, PXT-3003, has shown positive results both in preclinical and Phase 2 clinical studies published today in the Orphanet Journal of Rare Diseases.

Sneak Peak of Fall Newsletter: CMT Research Study Survey

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

Building Awareness on CMT and Supporting the Patient Community – HNF Announces Support from Pharnext

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.

Quality of Life and CMT Research

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.

Help us answer questions that your doctors and the CMT Research Community aren’t too sure about.

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.

Join the conversation

Leave a Comment

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news