Treatment with NALL improves neurologic status among patients with Niemann-Pick disease type C
Niemann-Pick disease type C is a rare lysosomal storage disorder. It causes progressive systemic, psychiatric and neurologic symptoms and neurologic dysfunction. Current therapeutic modality includes limited to slowing progression of neurologic symptoms with miglustat. N-acetyl-l-leucine (NALL), normalizes cellular energy production and improves lysosomal function. It is being investigated as a treatment for Niemann-Pick disease type C.
According to a study published in the New England Journal of Medicine, Niemann-Pick disease type C patients treated with NALL for 12 weeks leads to better neurologic status compared to the placebo.
In this study, researchers evaluated the safety and efficacy of NALL. Patients with genetically confirmed Niemann–Pick disease type C, aged four or older, were randomly assigned to receive NALL or a placebo for 12 weeks. NALL or placebo was orally administered two to three times a day. Patients aged 4 to 12 years received weight-based doses (2 to 4 g/day), while those aged 13 years or older received 4 g/day.
The primary endpoint was the Scale for the Assessment and Rating of Ataxia (SARA), with lower scores indicating better neurologic status. Secondary endpoint included the Clinical Global Impression of Improvement, the Spinocerebellar Ataxia Functional Index, and the Modified Disability Rating Scale. Crossover data from both 12-week periods were used to compare NALL with placebo.
Key results of the study are:
- The mean baseline SARA total scores were 15.88 before receipt of the NALL first dose in 60 patients and 15.68 before receipt of the first dose of placebo in 59 patients.
- The mean (±SD) change from baseline in the SARA total score was −1.97±2.43 points after 12 weeks of receiving NALL and −0.60±2.39 points after 12 weeks of receiving placebo. The least-squares mean difference was −1.28 points.
- The incidence of adverse events was similar with NALL and placebo.
- These patients had transient adverse events judged to be NALL-related.
- No serious adverse events were reported.
In patients with Niemann–pick disease type c, 12 weeks of NALL treatment improved neurologic status compared to placebo. However, further research is needed to assess the long-term effects of this treatment.
IntraBio funded the study.
Further reading:
Tatiana Bremova-Ertl et al. Trial of N-Acetyl-l-Leucine in Niemann–Pick Disease Type C. N Engl J Med 2024; 390:421-431 10.1056/NEJMoa2310151
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