ABS-0871 Receives FDA Orphan Drug Designation for Treatment of Charcot-Marie-Tooth Disease 2C
The FDA also granted rare pediatric disease designation for the drug.
The FDA granted orphan drug designation (ODD) and rare pediatric disease designation (RPDD) for ABS-0871, a TRPV4 inhibitor, for the treatment of Charcot-Marie-Tooth disease subtype 2C (CMT2C) with a TRPV4 mutation, according to a news release from Actio Biosciences.1
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“TRPV4 mutations cause CMT2C, a devastating disease that leads to debilitating and life-threatening symptoms, such as severe muscle weakness, vocal cord paresis, and respiratory complications,” David Goldstein, MD, co-founder and CEO of Actio, said in the news release.1
“We are pleased to have received these designations from the FDA for ABS-0871 for CMT2C, a decision that underscores the recognition of the urgent need for new treatments for these patients,” he continued.1
CMT disease is a group of inherited disorders that can cause nerve damage in patients, primarily in the peripheral nerves of the arms and legs. The disease results in weaker and smaller muscles, and patients can experience muscle contractions, loss of sensation, and difficulty walking.2
As Goldstein alluded to, the disease can cause severe complications, with foot abnormalities and walking difficulties being the most serious problems. Other causes of neuropathies, such as diabetes can cause similar symptoms, and can also cause the symptoms of CMT to worsen.2
The disease has an estimated frequency of 1 in 2500 people, and epidemiological data from adult neuropathy centers indicate that CMT is more common than inflammatory or paraneoplastic neuropathies.3
“The collaborative efforts showcased through our Patients as Partners platform were instrumental in reaching this milestone, demonstrating the power of uniting the CMT community with industry leaders,” Sue Bruhn, PhD, CEO of the Charcot-Marie-Tooth Association, said in the news release. “This significant progress is a testament to the strength and dedication of our community, who made this achievement possible.”1
ODD is granted to therapies intended for the treatment of rare diseases that affect fewer than 200,000 people in the United States. The designation can provide certain benefits to drug manufacturers, including tax credits, the partial payment or waiver of FDA application fees, and 7 years of market exclusivity if the drug is approved.1
RPDD are typically granted for rare conditions that affect children under 18 years old. Recipients of this designation are awarded a priority review voucher, upon approval of the drug.1
Two classes of rare autosomal-dominant disorders—peripheral neuropathies, including CMT2C, and skeletal dysplasia—are caused by TRPV4 mutations. There are currently no specific treatment options available for TRPV4-mediated diseases, and treatment is predominantly symptomatic and rehabilitative, highlighting the importance of these FDA designations for ABS-0871.1,3
Given that treatment options remain limited and is primarily symptomatic, pharmacists should look to pain-management or anti-inflammatory drugs for patients with CMT2C. Additionally, they should work to establish a multidisciplinary, interprofessional health care team for treating patients with CMT.3
Actio’s ABS-0871 small molecule program targets TRPV4 and is currently advancing towards the clinic for the treatment of CMT2C- and TRPV4-related bone diseases. When evaluating the program in novel construct-valid preclinical TRPV4 rare disease models, a marked improvement in motor function and mobility was demonstrated, compared to untreated controls.1
