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Docosahexaenoic Acid (DHA) Replacement for Treatment in Spinocerebellar Ataxia 38

NCT03109626 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2018-12-31

No results posted yet for this study

Summary

The project will study a therapeutic approach in Spinocerebellar Ataxia (SCA38) by DHA replacement. SCA38 is caused by missense mutations in the ELOVL5 (Elongation of very long chain fatty acids protein 5) gene.

Background/Rationale: ELOVL5 is a microsomal fatty acid elongase gene required for the synthesis of arachidonic acid and DHA. In brain, it shows a peculiar high expression in cerebellar Purkinje cells.

The ELOVL5 products, such as DHA, are decreased in SCA38 patients serum and DHA administered as a dietary supplement has been shown to improve SARA scores, to ameliorate quality of life, and to increase brain cerebellar hypometabolism (FDG-PET) in two SCA38 patients.

Experimental Plan: The investigators will perform a randomized placebo-controlled trial by DHA supplementation on ten SCA38 patients, followed by an open-label phase.

Expected results: DHA supplementation should be able to improve symptoms in SCA38 and to improve cerebellar hypometabolism in these patients.

Conditions

  • SCA38

Interventions

DIETARY_SUPPLEMENT

DHA

Sponsors & Collaborators

  • Barbara Borroni

    lead OTHER

Principal Investigators

  • Barbara Borroni, MD · AO Spedali Civili

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
TRIPLE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-06-17
Primary Completion
2015-09-17
Completion
2018-06-25

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03109626 on ClinicalTrials.gov