FDA Approves First Treatment for Ataxia-Telangiectasia

The US Food and Drug Administration (FDA) has approved Aqneursa (levacetylleucine; IntraBio) for the treatment of adults and pediatric patients with ataxia-telangiectasia (A-T) who weigh at least 15 kg, providing the first FDA-approved treatment for the rare multisystem disorder.

A-T is primarily characterized by progressive neurologic dysfunction, but several characteristic cutaneous manifestations can contribute to recognition of the disease. Most notably, patients can develop telangiectasias of the skin and conjunctiva, often beginning during childhood. Cutaneous findings may also include pigmentary abnormalities and features of premature aging.

A-T is a rare autosomal-recessive disorder caused by pathogenic variants in the ATM gene. Progressive cerebellar degeneration leads to worsening ataxia that can affect gait, balance, truncal control, speech, hand coordination, and eye movements. The disease is also associated with immunodeficiency, pulmonary complications, increased cancer susceptibility, and other systemic manifestations, making multidisciplinary management important.

According to an announcement from IntraBio, Aqneursa is the first treatment approved specifically for A-T.

First-in-Class Oral Treatment

Aqneursa is a first-in-class, chemically modified amino acid treatment administered orally as a suspension. The therapy was previously approved for the treatment of neurologic manifestations of Niemann-Pick disease type C in adults and pediatric patients weighing at least 15 kg.

The molecular target through which levacetylleucine exerts its therapeutic effects in either A-T or Niemann-Pick disease type C remains unknown.

The A-T approval was supported by results from the phase 3 IB1001-303 study (NCT06673056), a randomized, double-blind, placebo-controlled crossover trial involving 73 patients aged 4 to 50 years with genetically confirmed A-T. The study was conducted across 10 sites in the United States and Europe, with 70 participants completing the trial and receiving both Aqneursa and placebo.

Phase 3 Results

Treatment with Aqneursa resulted in a statistically significant improvement compared with placebo on the Scale for the Assessment and Rating of Ataxia (SARA). The treatment difference was -1.9 points (95% CI, -2.7 to -1.1; 2-sided P<.001).

Investigators also evaluated patients using the functional SARA, a modified assessment incorporating gait, sitting, stance, and speech disturbance. Aqneursa produced a mean treatment difference of -0.6 points compared with placebo (95% CI, -0.9 to -0.2; 2-sided P<.001).

According to IntraBio, treatment effects were consistent across secondary endpoints and prespecified subgroups, including pediatric and adult participants.

No treatment-related serious adverse events, deaths, or discontinuations due to treatment-related adverse events were reported. The most common adverse reactions occurring in at least 5% of patients and more frequently with Aqneursa than placebo were falls, skin lacerations, and urinary tract infections.

Based on animal data, levacetylleucine may cause embryo-fetal harm. Concomitant administration with N-acetyl-DL-leucine or N-acetyl-D-leucine should also be avoided.

Why A-T Matters in Dermatology

For dermatologists, the approval highlights a rare disease in which visible cutaneous findings can accompany—and occasionally help point toward—a complex systemic diagnosis.

Telangiectasias are among the defining features of A-T and typically become apparent after neurologic abnormalities have begun. Recognition of an unusual telangiectatic pattern, particularly in a child with gait abnormalities, impaired coordination, recurrent infections, or other suggestive findings, may warrant consideration of an underlying systemic disorder and referral for further evaluation.

Dermatologists may also participate in the long-term care of these patients because A-T is associated with abnormal DNA damage responses and increased malignancy susceptibility. Awareness of the diagnosis is therefore relevant when evaluating new or changing skin lesions and when coordinating care with neurology, immunology, oncology, genetics, and other specialties.

Aqneursa does not specifically target the dermatologic manifestations of A-T. However, the availability of the first FDA-approved therapy for the disease represents an important development for patients with a condition that dermatologists may encounter through its characteristic cutaneous signs.

Source

IntraBio. IntraBio announces U.S. FDA approval of AQNEURSA® (levacetylleucine) for ataxia-telangiectasia. BioSpace. Published September 21, 2026. Accessed September 23, 2026. https://www.biospace.com/press-releases/intrabio-announces-u-s-fda-approval-of-aqneursa-levacetylleucine-for-ataxia-telangiectasia