N-Acetyl-Leucine N-Acetyl-Leucine is an orally administered, modified amino acid that is being developed as a novel treatment for multiple rare and common neurological disorders by IntraBio Inc (Oxford, United Kingdom). N-Acetyl-Leucine has been granted multiple orphan drug designations from the U.S. Food & Drug Administration (FDA) and the European Medicines Agency (EMA) for the treatment of various genetic diseases, including Ataxia-Telangiectasia. N-Acetyl-Leucine has also been granted Orphan Drug Designations in the US and EU for related inherited cerebellar ataxias, such as Spinocerebellar Ataxias. U.S. Food & Drug Administration (FDA) and the European Medicines Agency (EMA). Published case series studies have demonstrated the positive clinical benefit of treatment with N-Acetyl-Leucine various inherited cerebellar ataxias. A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment Ataxia-Telangiectasia began in 2019. IntraBio is also conducting two parallel clinical trials with N-Acetyl-L-Leucine for the treatment Niemann-Pick disease type C and GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) Future opportunities to develop N-Acetyl-Leucine include Lewy Body Dementia, Amyotrophic lateral sclerosis, Restless Leg Syndrome, Multiple Sclerosis, and Migraine. Prognosis Median survival in two large cohorts studies was 25 and 19 years of age, with a wide range. Life expectancy does not correlate well with severity of neurological impairment. Epidemiology Individuals of all races and ethnicities are affected equally. The incidence worldwide is estimated to be between 1 in 40,000 and 1 in 100,000 people. Research directions An open-label Phase II clinical trial studying the use of red blood cells (erythrocytes) loaded with dexamethasone sodium phosphate found that this treatment improved symptoms and appeared to be well tolerated. This treatment uses a unique delivery system for medication by using the patient's own red blood cells as the delivery vehicle for the drug. References External links About A–T from the NINDS Orphanet for A–T GeneReviews for ataxia–telangiectasia Replication-Independent Double-Strand Breaks (DSBs) Discusses importance of the ATM kinase Chromosome instability syndromes Genodermatoses Systemic atrophies primarily affecting the central nervous system Neurodegenerative disorders IUIS-PID table 3 immunodeficiencies DNA replication and repair-deficiency disorders Syndromes affecting the nervous system Syndromes with tumors