Open-Label Trial of Sulforaphane in Premutation Carriers With FXTAS

University of California (UC) Davis

Status: Completed

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

Treatments: Dietary Supplement: Sulforaphane

Study type: Interventional

Funder types: Other

Identifiers

NCT05233579

1743661

Details and patient eligibility

About

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.

Enrollment: 15 patients

Sex: All

Ages: 50 to 85 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Diagnosis of FXTAS
• Presence of a FMR1 premutation (55 to 200 CGG repeats)

Exclusion criteria

• Individuals with severe renal failure (GFR is <60 ml/min/1.73 m^2)
• Significant and current reported substance abuse
• Individuals with substance use disorder (meets 6 or more symptoms of substance use disorder criteria)
• Any subject on hospice or on home oxygen
• Individuals who are pregnant

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Sequential Assignment

Masking: None (Open label)

---

15 participants in 6 patient groups

Sulforaphane 1 Tablet

Experimental group

Description:

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.

Treatment:

Dietary Supplement: Sulforaphane

Sulforaphane 2 Tablets

Experimental group

Description:

Participants will increase dosage to 2 tablets per day after 2 weeks from the start of study participation. Participants will continue to take 2 tablets for 2 addiitonal weeks before increasing dose. If participants experience adverse side effects, participants will decrease dosage to 1 tablet.

Treatment:

Dietary Supplement: Sulforaphane

Sulforaphane 3 Tablets

Experimental group

Description:

Participants will increase dosage to 3 tablets per day at 4 weeks from the start of study participation. Participants will continue to take 3 tablets for 2 addiitonal weeks before increasing dose. If participants experience adverse side effects, participants will decrease dosage to 2 tablets.

Treatment:

Dietary Supplement: Sulforaphane

Sulforaphane 4 Tablets

Experimental group

Description:

Participants will increase dosage to 4 tablets per day at 6 weeks from the start of study participation. Participants will continue to take 4 tablets for 2 addiitonal weeks before increasing dose. If participants experience adverse side effects, participants will decrease dosage to 3 tablets.

Treatment:

Dietary Supplement: Sulforaphane

Sulforaphane 5 Tablets

Experimental group

Description:

Participants will increase dosage to 5 tablets per day at 8 weeks from the start of study participation. Participants will continue to take 5 tablets for 2 addiitonal weeks before increasing dose. If participants experience adverse side effects, participants will decrease dosage to 4 tablets.

Treatment:

Dietary Supplement: Sulforaphane

Sulforaphane

Experimental group

Description:

Participants will increase dosage to 6 tablets per day at 10 weeks from the start of study participation. Participants will continue to take 6 tablets for 2 addiitonal weeks before increasing dose. If participants experience adverse side effects, participants will decrease dosage to 5 tablets.

Treatment:

Dietary Supplement: Sulforaphane