IntraBio is preparing to pursue additional regulatory approvals for Aqneursa as it expands the drug’s potential use beyond Niemann-Pick disease type C. The Texas-based pharmaceutical company said it intends to move forward “immediately” with regulatory submissions to the U.S. Food and Drug Administration, the European Medicines Agency, and other global authorities based on results from a phase 3 clinical trial in Ataxia-Telangiectasia.
The late-stage study evaluated Aqneursa, also known as levacetylleucine, in patients with Ataxia-Telangiectasia, a rare and progressive neurodegenerative disorder that affects approximately one in 70,000 people and currently has no approved treatments.
According to IntraBio, patients receiving the therapy experienced a statistically significant and clinically meaningful improvement of 1.88 points on the Scale for the Assessment and Rating of Ataxia compared with placebo after 12 weeks of treatment. The company added that secondary endpoints were also achieved, with positive outcomes observed across additional measures used to assess ataxia symptoms.
Ataxia-Telangiectasia typically begins in early childhood and is characterized by worsening loss of motor coordination, difficulties with speech and eye movement, and eventual reliance on wheelchairs as degeneration of the cerebellum progresses. The condition is also associated with visible blood vessel abnormalities, weakened immune function, lung disease, and a substantially elevated risk of cancer, IntraBio said.
Commenting on the trial findings, investigator Franziska Hoche, M.D., described the results as a “major scientific and clinical milestone,” stating that they provide “compelling evidence that levacetylleucine has a meaningful impact on A-T patients’ lives.” The study was conducted in collaboration with key opinion leaders and Ataxia-Telangiectasia patient organizations, with a focus on evaluating both symptomatic effects and longer-term clinical outcomes.
In parallel with its Ataxia-Telangiectasia program, Aqneursa is also in late-stage development for several rare neurological conditions linked to mutations in the CACNA1A gene, according to the company.
The push into new indications follows Aqneursa’s recent entry into the commercial market. Approximately three months ago, the drug received FDA approval for the treatment of Niemann-Pick disease type C, a lysosomal storage disorder. That approval made Aqneursa the second therapy cleared for the condition in the United States, coming shortly after Zevra Therapeutics’ Miplyffa received regulatory authorization.
IntraBio made Aqneursa available to patients immediately following FDA approval. The company has highlighted that, unlike Miplyffa, which is prescribed alongside Johnson & Johnson’s enzyme inhibitor Zavesca, Aqneursa is the first stand-alone therapy in the U.S. approved for both adult and pediatric patients with Niemann-Pick disease type C. As of Jan. 21, the drug had also secured approval from the European Commission. In Europe, Aqneursa may be used either in combination with Zavesca or as a monotherapy in patients who are unable to tolerate the enzyme inhibitor.
Miplyffa has not yet received European approval. At the J.P. Morgan Healthcare Conference in San Francisco, executives from Zevra emphasized the commercial importance of the European market, citing higher diagnosis rates for Niemann-Pick disease type C in the region.
IntraBio, which is privately held, has not released sales data for Aqneursa. Zevra has reported securing 137 prescription enrollment forms since the launch of Miplyffa through the third quarter. Separately, analysts at Delveinsight have projected peak U.S. sales of $500 million for Aqneursa in Niemann-Pick disease type C.
Aqneursa Moves Toward Regulatory Review
IntraBio has announced plans to move forward with regulatory submissions for its investigational therapy targeting ataxia-telangiectasia after achieving positive outcomes in a Phase 3 clinical trial. The development represents a significant milestone for the company and the rare disease community.
Phase 3 Trial Shows Clinical Benefit
The late-stage study demonstrated meaningful improvements in neurological function among treated patients. Trial data also supported a favorable benefit-risk profile, strengthening the case for regulatory review.
Addressing a Rare Genetic Disorder
Ataxia-telangiectasia is a rare, inherited condition with limited treatment options. The therapy is designed to address underlying neurological symptoms and improve quality of life for affected patients, an area of high unmet medical need.
