In the United States, Orphan Drug designation is granted by the FDA to drugs or biologics designed to treat, diagnose, or prevent a rare condition affecting fewer than 200,000 people nationwide. Typically, it can be challenging to mobilize drug developers for rare disease causes. This designation provides incentives—fee waivers, tax credits, regulatory assistance, and seven years of market exclusivity upon drug approval—to encourage drug development in this space. Of particular importance is meeting and filling unmet needs; for example, there are no disease-specific treatments or cures for Fragile X syndrome (FXS), so identifying drugs that could be used to help these patients and families should be top of mind.
Clinical-stage biopharmaceutical company Spinogenix, Inc. is working to overcome these barriers and provide better support for those with Fragile X syndrome. The company recently shared that its investigational small molecule BK activator SPG601 was granted Orphan Drug designation for the potential treatment of FXS.
Spinogenix believes that calcium-activated potassium (BK) channels are dysfunctional or deficient in FXS. As a result, these channels drive symptoms such as anxiety, aggression, or hyperactivity. SPG601 works by binding to these channels and activating them, improving BK channel function and restoring synapses. Currently, Spinogenix is planning to evaluate SPG601 in a Phase 2a clinical study in adult males with Fragile X syndrome.
Learn the Facts of Fragile X Syndrome (FXS)
Fragile X syndrome is the most commonly inherited form of inherited developmental disability. Normally, the FMR1 gene produces a protein called fragile X mental retardation protein (FMRP) which plays a role in neural development. People with FXS have an expanded CGG triplet repeat within the FMR1 gene on the X chromosome, halting FMRP production and disrupting synaptic function and brain development. Males are significantly more affected than females. FXS may present with developmental delays, learning disabilities, cognitive or intellectual delays, speech and language problems, stuttering, or behavioral problems such as anxiety, depression, or hyperactivity. If your loved one was diagnosed with FXS, please consider reaching out to the National Fragile X Foundation for tools, resources, educational materials, and support.
