A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

To be able to join this study, you would need to be aged 4 years or older and have a clear diagnosis of Niemann-Pick Disease Type C, confirmed by genetic tests. If you are a parent or guardian, you'd need to give your permission for your child to take part. For adults capable of making their own decisions, you would need to give your own consent.

For women who might be able to get pregnant, there are specific requirements to make sure you don't become pregnant during the study. This means either agreeing not to have sex during the study period or using very reliable birth control methods. If you are past childbearing age, or have had certain surgical procedures to prevent pregnancy, different rules might apply. Men taking part who are able to father children would also need to use contraception or agree to avoid sex during and after the study for a certain period.

If you decide to take part, the study will have a few different stages. First, there will be a 'baseline' period of about two weeks where doctors will do checks to understand your health before any study treatment starts. After this, you'll be randomly assigned to either receive the study medicine (N-Acetyl-L-Leucine, or IB1001) or the placebo (dummy treatment) for about 12 weeks. Neither you nor your doctor will know which one you are getting.

Once this first 12 weeks is over, you'll then switch over to receive the opposite treatment – if you had the study medicine, you'll get the placebo, and vice versa – for another 12 weeks. During each of these 12-week periods, you'll have appointments to see the study team who will check how you're doing. After these two treatment periods, there's a chance to join an 'extension phase' where you could receive the active study medicine for up to three years. The total time you'd be involved largely depends on whether you join the extension phase.