Thursday, March 14, 2019

Docosahexaenoic acid (DHA) for spinocerebellar ataxia 38 (SCA38) treatment

MartaManes, Antonella Alberici, Eleonora Di Gregorio, Loredana Boccone, Enrico Premi, Nico Mitro, Maria Pia Pasolini, Claudia Pani, Barbara Paghera, LauraOrsi, Chiara Costanzi, Marta Ferrero, FilippoTempia, DonatellaCaruso, AlessandoPadovani, Alfredo Brusco, Barbara Borroni. Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.  Parkinsonism & Related Disorders.  Available online 7 March 2019. rights and content

Spinocerebellar Ataxia 38 (SCA38) is caused by mutations within ELOVL5 gene, which encodes an enzyme involved in the metabolism of very long fatty acids. 
In this open label extension clinical trial we evaluated the long-term safety and efficacy of oral docosahexaenoic acid (DHA) supplementation. 
DHA replacement therapy is an effective long-term treatment in SCA38.


Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation has been proven effective at short-term follow-up. In the present paper, we evaluated long-term safety and efficacy of 600 mg/day oral DHA in SCA38 by a 2-year open label extension study.

Nine SCA38 patients underwent standardised clinical assessment at 62 (T1), 82 (T2) and 104 (T3) weeks, and compared to pre-treatment scores (T0). Brain 18-Fluorodeoxyglucose Positron Emission Tomography and electroneurography were performed at T0 and T3.

We found a significant maintenance of clinical symptom improvement at each follow-up time-point (p < 0.001) as compared to T0, a sustained increase of cerebellar metabolism at T3 as compared to T0 (p = 0.013), and no worsening of neurophysiological parameters. No side effect was recorded.

Long-term DHA supplementation is an eligible treatment for SCA38.

Spinocerebellar ataxia 38 (SCA38)CerebellumAtaxiaDocosahexaenoic acid (DHA)Clinical trial

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