Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study

Marta Manes; Antonella Alberici; Eleonora Di Gregorio; Loredana Boccone; Enrico Premi; Nico Mitro; Maria Pia Pasolini; Claudia Pani; Barbara Paghera; Laura Orsi; Chiara Costanzi; Marta Ferrero; Filippo Tempia; Donatella Caruso; Alessando Padovani; Alfredo Brusco; Barbara Borroni

doi:10.1016/j.parkreldis.2019.02.040

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study

Parkinsonism Relat Disord. 2019 Jun:63:191-194. doi: 10.1016/j.parkreldis.2019.02.040. Epub 2019 Mar 7.

Authors

Marta Manes¹, Antonella Alberici¹, Eleonora Di Gregorio², Loredana Boccone³, Enrico Premi¹, Nico Mitro⁴, Maria Pia Pasolini⁵, Claudia Pani³, Barbara Paghera⁶, Laura Orsi⁷, Chiara Costanzi⁸, Marta Ferrero⁹, Filippo Tempia¹⁰, Donatella Caruso⁴, Alessando Padovani¹, Alfredo Brusco², Barbara Borroni¹¹

Affiliations

¹ Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
² Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy; Department of Medical Sciences University of Turin, Turin, Italy.
³ Ospedale Regionale Microcitemie, AOBrotzu, Cagliari, Italy.
⁴ Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
⁵ Neurophysiology Unit, "Spedali Civili", Brescia, Italy.
⁶ Department of Nuclear Medicine, University of Brescia, Brescia, Italy.
⁷ Neurologic Division 1 Department of Neuroscience and Mental Health AOU Città della Salute e della Scienza di Torino, Turin, Italy.
⁸ Neurology Unit, Cremona Hospital, Cremona, Italy.
⁹ Department of Medical Sciences University of Turin, Turin, Italy.
¹⁰ Neuroscience Institute Cavalieri Ottolenghi (NICO) and Department of Neuroscience, University of Turin, Turin, Italy.
¹¹ Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address: bborroni@inwind.it.

PMID: 30862453
DOI: 10.1016/j.parkreldis.2019.02.040

Abstract

Introduction: 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.

Methods: 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.

Results: 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.

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

Keywords: Ataxia; Cerebellum; Clinical trial; Docosahexaenoic acid (DHA); Spinocerebellar ataxia 38 (SCA38).

Publication types

Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Docosahexaenoic Acids / administration & dosage
Docosahexaenoic Acids / adverse effects
Docosahexaenoic Acids / pharmacology*
Electric Stimulation
Electromyography
Fatty Acid Elongases / genetics
Female
Fluorodeoxyglucose F18
Follow-Up Studies
Humans
Male
Middle Aged
Positron-Emission Tomography
Radiopharmaceuticals
Spinocerebellar Ataxias / diagnostic imaging
Spinocerebellar Ataxias / drug therapy*
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / physiopathology*

Substances

ELOVL5 protein, human
Radiopharmaceuticals
Fluorodeoxyglucose F18
Docosahexaenoic Acids
Fatty Acid Elongases