Brueggemann, AdrianaAdrianaBrueggemannBicvic, AntonelaAntonelaBicvicGöldlin, Martina BéatriceMartina BéatriceGöldlin0000-0001-5800-116XKalla, RogerRogerKallaKerkeni, HassenHassenKerkeniMantokoudis, GeorgiosGeorgiosMantokoudisAbegg, MathiasMathiasAbegg0000-0002-5150-9320Kolníková, MiriamMiriamKolníkováMohaupt, MarkusMarkusMohauptBrémovà-Ertl, TatianaTatianaBrémovà-Ertl2024-10-052024-10-052022-01https://boris-portal.unibe.ch/handle/20.500.12422/54220BACKGROUND There is no authorized treatment for ataxia telangiectasia (AT). As cerebellar symptoms of storage diseases were improved by acetyl-DL-leucine (ADLL), the authors hypothesized a symptomatic and disease-modifying effect in AT upon supplementation with ADLL. METHODS Six patients were treated with ADLL 3 g/day for 1 week followed by 5g/day for 3 weeks to 1 year. Cerebellar ataxia was evaluated by validated scales. Gaze-holding, saccades and smooth pursuit were examined by video-oculography. Measurements took place at baseline, at 1 month of therapy in 5 patients, and after 6 and 12 months in 1 patient. RESULTS The Scale for Assessment and Rating of Ataxia changed from the baseline, mean, (SD, min-max) of 22.1 (5.88, 11-28.5) to 18 points (5.39, 8.5-23.5) after 1 month on medication (P = .0028). All patients demonstrated gaze-holding deficits; 3 patients had central-position downbeat-nystagmus. Mean slow-phase velocity of this nystagmus with the gaze straight-ahead changed from 5.57°/s (1.8, 3.53-6.99) to 4.7°/s (0.79, 3.97-5.56) after 1 month on treatment (1.35, -2.56-4.17) (P = .046). INTERPRETATION ADLL may improve ataxia and ocular stability in AT patients, while the molecular basis still remains to be elucidated. A multicentric, rater-blinded, phase II trial currently investigates the effects of acetyl-L-leucine in AT (NCT03759678).enataxia cerebellum neurodevelopment pediatric quality of life600 - Technology::610 - Medicine & healtharticle10.48350/1608433462002210.1177/08830738211028394