Levin et al (2014) recently reported on a study exploring the impact of combined oral cysteamine bitartrate (60 mg/kg per day) and N-acetylcysteine (60 mg/kg per day) in patients with neuronal ceroid lipofuscinosis (n=10, age range: 6 months to 3 years old).
Assessments took place every 6-12 months until the patients had an isoelectric EEG or were too ill to travel. Electroretinography, brain MRI/MRS, electron microscopic analyses of leukocytes for granular osmiophilic deposits (GRODs), and physical/ neurodevelopmental assessments on the Denver scale were also performed.
Combination therapy with cysteamine bitartrate and N-acetylcysteine was associated with delay of isoelectric EEG (average time to isoelectric EEG was 52 months compared with 36 months in previous publications), depletion of GRODs, and subjective benefits as reported by parents and physicians (less irritability, improved alertness).
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB. Lancet Neurol. 2014 Aug;13(8):777-87. PMID: 24997880
posted by Yannis Trakadis, MD