Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38
Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B
Annals of neurology · 28 citas
Cómo se estudió
- Diseño
- Ensayo controlado aleatorizado (indexado por PubMed)
- Estudiado en
- Personas
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiación independiente
- Organización sin fines de lucro
- Fondazione Telethon
- Organización sin fines de lucro
- Telethon
- Subvenciones
- Fondazione Telethon (GGP14225)
Según 2 financiadores declarados y la declaración de financiación del texto completo.
Publicación
- Publicado
- 2017-10-01 · Ann Neurol · vol. 82 · número 4 · págs. 615–621
- Editorial
- Wiley
- Citado
- 38 citas · más que el 86% de estudios similares · 1.9× el promedio de su campo
- Referencias
- 26 trabajos
- Acceso
- Acceso abierto (revista híbrida) · CC-BY-NC
- Áreas de investigación
- Fatty Acid Research and Health · Lipid metabolism and biosynthesis · Genetic Neurodegenerative Diseases
- Palabras clave
- Spinocerebellar ataxia, Docosahexaenoic acid, Ataxia, Internal medicine, Gastroenterology, Placebo, Medicine, Pathology, Fatty acid, Polyunsaturated fatty acid, Biology, Biochemistry, Disease
- MeSH
- brain, humans, spinocerebellar ataxias, fluorodeoxyglucose f18, docosahexaenoic acids, positron-emission tomography, electromyography, treatment outcome, follow-up studies, double-blind method, mutation, dietary supplements, adult, middle aged, female, male, ataxins, outcome assessment, health care
20 autores
- Marta Antonia Manes🇺🇸🇮🇹Brescia University; University of Brescia
- Antonella Alberici🇺🇸🇮🇹Brescia University; University of Brescia
- Eleonora Di Gregorio🇧🇾🇮🇹Department of Medical Sciences; University of Turin
- Loredana Boccone🇮🇹Ospedale Microcitemico
- Enrico Premi🇺🇸🇮🇹Brescia University; University of Brescia
- Nico Mitro🇮🇹University of Milan
- Maria Pia Pasolini🇮🇹Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
- Claudia Pani🇮🇹Ospedale Microcitemico
- Barbara Paghera🇺🇸🇮🇹Brescia University; University of Brescia
- Daniela Perani🇮🇹🇿🇦🇨🇭Vita-Salute San Raffaele University; San Raffaele University of Rome; Mylan (South Africa); Mylan (Switzerland)
- Laura Orsi
- Chiara Costanzi🇮🇹Istituti Ospitalieri di Cremona
- Marta Ferrero🇧🇾🇮🇹Department of Medical Sciences; University of Turin
- Adele Zoppo🇮🇹Ospedale San Carlo
- Filippo Tempia🇮🇹Neuroscience Institute; Neuroscience Institute Cavalieri Ottolenghi; University of Turin
- Donatella Caruso🇮🇹University of Milan
- Mario Grassi🇮🇹University of Pavia
- Alessandro Padovani🇺🇸🇮🇹Brescia University; University of Brescia
- Alfredo Brusco🇧🇾🇮🇹Department of Medical Sciences; University of Turin
- Barbara Borroni🇺🇸🇮🇹 · autor de correspondenciaBrescia University; University of Brescia
Resumen
El texto original del estudio, en el idioma en que se publicó.
Objective
Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In the present study, we evaluated the safety of DHA supplementation, its efficacy for clinical symptoms, and changes of brain functional imaging in SCA38 patients.
Methods
We enrolled 10 SCA38 patients, and carried out a double-blind randomized placebo-controlled study for 16 weeks, followed by an open-label study with overall 40-week DHA treatment. At baseline and at follow-up visit, patients underwent standardized clinical assessment, brain 18-fluorodeoxyglucose positron emission tomography, electroneurography, and ELOVL5 expression analysis.
Results
After 16 weeks, we showed a significant pre-post clinical improvement in the DHA group versus placebo, using the Scale for the Assessment and Rating of Ataxia (SARA; mean difference [MD] = +2.70, 95% confidence interval [CI] = +0.13 to + 5.27, p = 0.042). At 40-week treatment, clinical improvement was found significant by both SARA (MD = +2.2, 95% CI = +0.93 to + 3.46, p = 0.008) and International Cooperative Ataxia Rating Scale (MD = +3.8, 95% CI = +1.39 to + 6.41, p = 0.02) scores; clinical data were corroborated by significant improvement of cerebellar hypometabolism (statistical parametric mapping analyses, false discovery rate corrected). We also showed a decreased expression of ELOVL5 in patients' blood at 40 weeks as compared to baseline. No side effect was recorded.
Interpretation
DHA supplementation is a safe and effective treatment for SCA38, showing an improvement of clinical symptoms and cerebellar hypometabolism. Ann Neurol 2017;82:615-621.
Resumen vía Europe PMC. Los derechos de autor siguen siendo de los autores o la editorial (CC BY-NC).
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