Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone

Randi J. Hagerman, MD

Status and phase: Completed; Phase 2

Conditions: Fragile X-associated Tremor/Ataxia Syndrome

Treatments: Drug: Allopregnanolone

Study type: Interventional

Funder types: Other

Identifiers

NCT02603926

720668

Details and patient eligibility

About

The purpose of this study is to examine the safety and efficacy of Allopregnanolone as a possible treatment for symptoms of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).

Full description

This study includes a screening visit with several assessments, followed by an open-label medication trial of Allopregnanolone for 12 weeks and an end-point evaluation to assess for changes. Assessments include blood draws for genetic and safety laboratory testing, neurological and physical exam and medical history, cognitive testing, and motor testing.

Study record was updated in October 2018 to include adverse events and outcome measure reporting. Study record was updated in November 2018 in response to requests to (1) specify time frame of reported outcome measures, (2) clarify that the RASS was a safety monitoring tool, not a prespecified outcome measure, and as such will not be reported as an outcome measure, and (3) upload a version of the study protocol and statistical analysis plan with the required title page and statistical analysis plan information.

Enrollment: 6 patients

Sex: All

Ages: 50 to 85 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria

• Fragile X premutation carrier status (55 to 200 CGG repeats in FMR1),
• Diagnosis of FXTAS including an intention tremor and/or ataxia and/or deficits on the BDS-2 demonstrating executive function deficits.

Exclusion Criteria

• other genetic problems in addition to the premutation
• a history of significant brain trauma
• significant substance abuse
• inability to follow the protocol
• liver or kidney disease
• heart failure
• active cancer
• other serious systemic disease
• current use of phenytoin

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

6 participants in 1 patient group

Allopregnanolone

Experimental group

Description:

Subjects will receive an intravenous infusion of Allopregnanolone at escalating doses of 2mg, 4mg, and 6mg once weekly over a three week period. The highest dose tolerated without sedation will be held stable for the remaining weekly infusions, for a total of 12 infusions.

Treatment:

Drug: Allopregnanolone