Newly discovered gene affecting 1 in 100,000 individuals
SORD is a genetic metabolic disease resulting in CMT neuropathy. SORD Deficiency patients are missing a key enzyme needed to metabolize a sugar called sorbitol. It’s progressive and debilitating affecting the peripheral nerves and motor neurons resulting in loss of sensory and decreased mobility.
HNF Research Initiatives
FDA Repurpose Drugs
In September 2021, HNF partnered with Rarebase, a public benefit company that leverages cutting-edge technology (Function, a tech-enabled drug discovery platform) and biology using FDA-approved drugs to deliver accelerated, off-label treatments for CMT1A. HNF has completed Phase I of the project.
Novel Disease Modifying Drugs
Applied Therapeutics (AT)
A clinical-stage biopharmaceutical company partnered with HNF in 2020 to support the development of AT-007. AT is conducting the INSPIRE international phase III randomized interventional trial for SORD deficiency. This trial is designed to investigate the ability of AT-007 versus placebo to reduce toxic sorbitol levels and to evaluate the effect of AT-007 on improving disease symptoms over a longer period. HNF has been instrumental in helping to facilitate and accelerate the approval of their clinical lead product AT-007, an Aldose Reductase Inhibitor (ARI) currently in clinical trials.
University of Miami
To support the development of therapies for SORD deficiency, HNF developed and owns a SORD deficiency rat model in collaboration with Stephen Züchner, MD, Phd at University of Miami.
Natural History Studies
The Global Registry for Inherited Neuropathies (GRIN)
Developed in 2013 to stratify large groups of patients for all types of CMT to gain a deeper understanding of CMT. This important data also allows HNF to better identify the burden, diagnostic journey, and prevalence of CMT that will aid TRIAD research partners. Patient data = Improved Research & Clinical Trial Design.
A smartphone digital study sponsored by Pharnext Pharmaceuticals in collaboration with HNF, other CMT advocacy groups and experts in six countries to collect real-world anonymised data from adults (≥18 years) living with CMT. The aggregated data is available in close to real time, via dashboards and is analyzed based on pre-set criteria (ie. diseases stage, daily symptoms, age, demographics) to understand the real-world impact of CMT and the unmet needs of patients.
Applied Therapeutics, Inc. has announced that their drug candidate, AT-007 (Govorestat), has received orphan medicinal product designation
Clinical Trial Update for SORD Deficiency – Applied Therapeutics – Dr. Shoshana Shendelman
HNF Partner Applied Therapeutics is Currently Enrolling SORD Deficiency Patients for the INSPIRE Phase III Clinical Trial
Research from a mutation on the SORD gene
A new type of Charcot-Marie-Tooth (CMT) has recently been identified caused by mutations in the SORD gene.
Novel findings of a new common type of CMT2 that might be the 1st step to a treatment: SORD gene deficiency, the most common autosomal-recessive type of CMT
a mutation in the SORD gene that may may affect 60,000 patients worldwide