Brief Summary

FXTAS is a rare genetic progressive neurodegenerative disorder, linked to a trinucleotide repeat expansion in the FMR1 gene. FXTAS is characterized by tremor and ataxia in addition to atrophy and white matter disease in the central nervous system (CNS). In addition to the major clinical observations of intention tremor and gait dysfunction, minor symptoms of parkinsonism, neuropathy, and cognitive decline also significantly impact individuals with FXTAS. The dietary supplement being tested in this study is called Sulforaphane. It is found in broccoli and similar cruciferous vegetables and may cause some gas and discomfort. This is not a study looking at clinical efficacy but instead a study of molecular outcome measures. Investigators want to get more information about how Sulforaphane affects specific biomolecular markers captured in blood. In this study, participants will be taking an increasing amount of the Sulphoraphane supplement pills (238mg/tablet), starting at 1 and increasing to 6, every morning at breakfast for 6 months. In addition, there will be a total of 3 visits (Initial, 3-month and 6-month) to the MIND Institute where participants will be evaluated. At each visit (3 total) participants will undergo a battery of medical and neurologic exams which make take 2-3 days to complete each time. Participants and/or their caregivers will also be asked to fill out questionnaires/surveys. At the initial visit and at 6 months, we will collect blood for analysis. Two MRI scans will be done, also at the initial visit and at 6 months.

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

participants targeted

Target at below P25 for not_applicable

Timeline

Completed

Started Jun 2021

Geographic Reach

1 country

1 active site

Status

completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

1.5 years study duration

Study Start

First participant enrolled

June 25, 2021

Completed

4 months until next milestone

First Submitted

Initial submission to the registry

October 20, 2021

Completed

4 months until next milestone

First Posted

Study publicly available on registry

February 10, 2022

Completed

11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2023

Completed

Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2023

Completed

Last Updated

July 12, 2023

Status Verified

July 1, 2023

Enrollment Period

1.5 years

First QC Date

October 20, 2021

Last Update Submit

July 10, 2023

Conditions

Fragile X Associated Tremor/Ataxia Syndrome (Fxtas) (Diagnosis)

Keywords

Sulforaphane

Outcome Measures

Primary Outcomes (5)

Changes in mitochondrial function via mitochondrial membrane potential and mass.
Primary measures are performed on PBMCs. Mitochondrial mass and membrane potential will use selected floors and either plate readers or analytical flow cytometry.
Baseline, 6 months
Changes in mitochondrial function via ATP production
Using PMBCs we will observe in changes in ATP production of various segments of the electron transport chain by utilizing different substrates and coupling between electron transport and ATP production.
Baseline, 6 months
Observing changes in candidate molecular biomarkers in FXTAS and mitochondrial dysregulation: GRP78
Observing levels in potential molecular biomarkers that affect mitochondrial dysregulation. GRP78 is a master controller of the mitochondrial ER stress response. It helps improve Ca2+ transfer and mitochondrial function. Its level will be measured via ELISA
Baseline, 6 months
Observing changes in candidate molecular biomarkers in FXTAS and mitochondrial dysregulation: CHOP level
Observing levels in potential molecular biomarkers that affect mitochondrial dysregulation. CHOP is a common downstream indicator of mitochondrial ER stress signals. It helps improve Ca2+ transfer and mitochondrial function. Its level will be measured via ELISA
baseline, 6 months
Observing changes in candidate molecular biomarkers in FXTAS and mitochondrial dysregulation: Bax/Bcl-2 ratio
Observing levels in potential molecular biomarkers that affect mitochondrial dysregulation. Bax/Bcl-2 is a common measure of mitochondrial dysfunction. It helps improve Ca2+ transfer and mitochondrial function. It will be measure via Elisa.
baseline, 6 months

Secondary Outcomes (18)

Changes in clinical staging of FXTAS
Baseline, 6 months
Changes in subcortical brain structures damaged in FXTAS through MRI imaging
Baseline, 6 months
Changes in FLAIR hypersensitivity volume for subcortical lesions
Baseline, 6 months
Changes in Neurological Quality of Life using the Neuro-QoL upper extremity function fine motor scale
Baseline, 6 months
Changes in Neurological Quality of Life using the Neuro-QoL lower extremity functioning mobility scale
Baseline, 6 months
+13 more secondary outcomes

Study Arms (6)

Sulforaphane 1 Tablet

EXPERIMENTAL

Participants are taking 1 tablet per day. All participants will start with 1 tablet and continue with 1 tablet for 2 weeks before increasing dose.