Ignite Creation Date:
2024-05-06 @ 9:54 AM
Last Modification Date:
2024-10-26 @ 12:21 PM
Study NCT ID:
NCT03109626
Status:
COMPLETED
Last Update Posted:
2018-12-31
First Post:
2017-03-31
Brief Title:
Docosahexaenoic Acid DHA Replacement for Treatment in Spinocerebellar Ataxia 38
Sponsor:
Barbara Borroni
Organization:
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Study Overview
Official Title:
Translating Molecular Pathology Into a Therapeutic Strategy in SCA38 a Newly Identified Form of Spinocerebellar Ataxia
Status:
COMPLETED
Status Verified Date:
2018-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
SCA38DHA
Brief 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
BackgroundRationale 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
BackgroundRationale 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
Detailed Description:
Spinocerebellar ataxias SCAs include over thirty different subtypes of central nervous system diseases that affect approximately 1 in 30000 persons The investigators have identified the causative gene for SCA38 a novel rare form of cerebellar ataxia Estimated frequency of the disease is below 1 of SCAs The disease gene encodes an enzyme involved in omega-3 fatty acid biosynthesis whose products are reduced in SCA38 patients serum
The investigators reasoned that the administration of specific omega-3 fatty acids could ameliorate the disease symptoms in SCA38 patients Indeed preliminary data obtained in a pilot trial on two patients now in their 8th-month therapy are remarkable with an improvement of disease symptoms and quality of life without any adverse effect
The investigators will perform a clinical trial to prove this therapeutic strategy of SCA38 The investigators will evaluate clinical SARA scores ICARS scores brain PET images and plasma metabolic pattern in ten SCA38 patients
The trial will consist of two phases 1 a randomized double-blind placebotreatment 600 mg DHAday from T0 baseline observation to T1 evaluation at four-month Patients who will meet the study eligibility criteria will be randomized to receive the drug or the placebo ratio 11 A second open-label phase on all patients from T2 6 months to T5 30 months will be performed with repeated measures of the medication group n10
Patients will complete a personal diary during the whole treatment and a quality of life questionnaire at each visit The primary outcome will be the clinical improvement whilst secondary outcome will be considered the improvement of brain metabolism by PET-FDG
At each time point clinical evaluation video-record of SARAICARS scores will be performed Videos will be randomized and evaluated blindly by two independently clinicians
At T0 T1 T2 T5 patients will undergo brain PET-FDG scan PET-FDG scans will be performed by the same scanner at the University of Brescia
This project will provide helpful data on possible replacement treatment in this novel form of cerebellar degeneration
The investigators reasoned that the administration of specific omega-3 fatty acids could ameliorate the disease symptoms in SCA38 patients Indeed preliminary data obtained in a pilot trial on two patients now in their 8th-month therapy are remarkable with an improvement of disease symptoms and quality of life without any adverse effect
The investigators will perform a clinical trial to prove this therapeutic strategy of SCA38 The investigators will evaluate clinical SARA scores ICARS scores brain PET images and plasma metabolic pattern in ten SCA38 patients
The trial will consist of two phases 1 a randomized double-blind placebotreatment 600 mg DHAday from T0 baseline observation to T1 evaluation at four-month Patients who will meet the study eligibility criteria will be randomized to receive the drug or the placebo ratio 11 A second open-label phase on all patients from T2 6 months to T5 30 months will be performed with repeated measures of the medication group n10
Patients will complete a personal diary during the whole treatment and a quality of life questionnaire at each visit The primary outcome will be the clinical improvement whilst secondary outcome will be considered the improvement of brain metabolism by PET-FDG
At each time point clinical evaluation video-record of SARAICARS scores will be performed Videos will be randomized and evaluated blindly by two independently clinicians
At T0 T1 T2 T5 patients will undergo brain PET-FDG scan PET-FDG scans will be performed by the same scanner at the University of Brescia
This project will provide helpful data on possible replacement treatment in this novel form of cerebellar degeneration
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None