The US Food and Drug Administration (FDA) has approved Aqneursa (levacetylleucine) for oral suspension to treat ataxia in patients with ataxia-telangiectasia who weigh at least 33 pounds (15 kg). It is the first treatment approved for this rare condition.
Ataxia telangiectasia is a rare genetic disorder that affects the nervous system, the immune system, and many other parts of the body. The condition is typically characterized by early childhood onset of cerebellar ataxia, oculomotor apraxia, telangiectasias, choreoathetosis, a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. It is caused by changes in the ATM gene located on chromosome 11q22-23.
The mechanism of action of levacetylleucineis not fully understood. The treatment was previously approved in 2024 to treat neurological manifestations of Niemann-Pick disease type C.
The approval for treating patients with ataxia telangiectasia is based on results from a randomized, double-blind, placebo-controlled, two-period crossover trial (NCT06673056) of 73 patients aged 4 years or older with a confirmed diagnosis of ataxia-telangiectasia. Patients were randomly assigned to receive levacetylleucine followed by placebo, or placebo followed by levacetylleucine, with each treatment period lasting 12 weeks. A total of 70 patients (96%) completed the study.
Efficacy was assessed using the functional Scale for Assessment and Rating of Ataxia (fSARA), a modified clinical tool evaluating gait, sitting, stance, and speech disturbance. Patients receiving levacetylleucine scored better on the fSARA compared to patients on placebo and showed significant improvement in neurological function.
The most common adverse reactions in patients with ataxia-telangiectasia were fall, skin laceration, and urinary tract infection.
For more information, visit https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-therapy-treat-ataxia-patients-ataxia-telangiectasia-rare-genetic-disorder
To learn more about ataxia telangiectasia and other rare autoimmune conditions, visit https://checkrare.com/diseases/autoimmune-autoinflammatory-disorders/