Clinical Trial: Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: A Phase 3, Randomized, Double-blind, Placebo-controlled, Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose

Brief Summary: UX007G-CL301 is a Phase 3, randomized, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of UX007 in the treatment of movement disorders associated with Glucose Transporter Type 1 Deficiency Syndrome. The study will enroll approximately 40 subjects who experience disabling paroxysmal movement disorders.

Detailed Summary:

UX007G-CL301 is a randomized, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of UX007 in Glut1 DS. The study will enroll approximately 40 pediatric, adolescent, and adult subjects who are not on KD and are having disabling paroxysmal movement disorders. A movement disorder event is defined in this study as a period of time when the subject experiences one or more movement disorder symptoms, including symptoms that are experienced during a movement disorder event alone or significant worsening of continuous movement disorders. In this study, movement disorder events are defined as disabling if they affect or limit a subject's activities of daily living.

During the 6-week Run-in Period, subjects will record disabling paroxysmal movement disorder events in a daily electronic Glut1 DS symptom diary; if the minimum criterion for number of events is not met or subjects complete <80% of the daily electronic Glut1 DS symptom diary, the subject will be considered a screen failure and will not be randomized. Individuals may be allowed to rescreen, at the discretion of the Principal Investigator, subject to approval by the Medical Monitor.

At the end of the Run-in Period, eligible subjects will be randomized (1:1 ratio) to one of two treatment sequences (UX007/placebo or placebo/UX007). At Randomization, subjects will begin a 10-week double-blind Treatment Period 1. Treatment Period 1 will consist of a 2-week titration period and an 8-week Maintenance Period. At the end of Treatment Period 1, subjects will discontinue treatment and begin a 2-week washout period to minimize any potential carryover effect. Subjects will crossover to the second randomized, double-blind treatment assignment (placebo to UX007, UX007 to placebo) for an additional 10 weeks during Treatment Period 2. Treatment Period 2
Sponsor: Ultragenyx Pharmaceutical Inc

Current Primary Outcome: Frequency of disabling paroxysmal movement disorders [ Time Frame: 22 Weeks ]

Movement disorder events observed during the Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily Glut1 DS symptom diary.


Original Primary Outcome: Frequency of disabling paroxysmal movement disorders [ Time Frame: 3 years ]

Movement disorder events observed during the Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily Glut1 DS symptom diary.


Current Secondary Outcome:

  • Walking capacity and endurance [ Time Frame: 22 Weeks ]
    Determined by the distance walked in 12 minutes during the 12 Minute Walk Test (12MWT)
  • Health-related quality of life assessing physical function [ Time Frame: 22 Weeks ]
    Mobility, upper extremity function, fatigue, pain and social health using a PROMIS®-based questionnaire
  • Patient/caregiver global impression of change in clinical status [ Time Frame: 22 Weeks ]
    Using the Clinical Global Impression - Improvement (CGI-I)
  • Duration of disabling paroxysmal movement disorder events [ Time Frame: 22 Weeks ]
    Observed during the Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily electronic Glut1 DS symptom diary
  • Cognitive function [ Time Frame: 22 Weeks ]
    Measured by the Cambridge Neuropsychological Test Automated Battery (CANTAB) (assessed at select sites)


Original Secondary Outcome:

  • Walking capacity and endurance [ Time Frame: 3 years ]
    Determined by the distance walked in 12 minutes during the 12 Minute Walk Test (12MWT)
  • Health-related quality of life assessing physical function [ Time Frame: 3 years ]
    Mobility, upper extremity function, fatigue, pain and social health using a PROMIS®-based questionnaire
  • Patient/caregiver global impression of change in clinical status [ Time Frame: 3 years ]
    Using the Clinical Global Impression - Improvement (CGI-I)
  • Duration of disabling paroxysmal movement disorder events [ Time Frame: 3 years ]
    Observed during the Maintenance Period of treatment, as recorded by the subject/caregiver in an event-based daily electronic Glut1 DS symptom diary
  • Cognitive function [ Time Frame: 3 years ]
    Measured by the Cambridge Neuropsychological Test Automated Battery (CANTAB) (assessed at select sites)


Information By: Ultragenyx Pharmaceutical Inc

Dates:
Date Received: November 7, 2016
Date Started: January 31, 2017
Date Completion: December 4, 2019
Last Updated: April 12, 2017
Last Verified: April 2017