Observational Study of Males With Creatine Transporter Deficiency (Vigilan)

November 7, 2022 updated by: Ultragenyx Pharmaceutical Inc
The objectives of this study are to illustrate the clinical, neuro/electrophysiologic, biochemical, and developmental status and progression of patients with Creatine Transporter Deficiency (CTD) and to evaluate the utility of performance-based and other measures in the CTD population.

Study Overview

Status

Terminated

Conditions

Detailed Description

This is an observational study designed to determine an appropriate clinical assessment battery for males with CTD, and to evaluate Magnetic resonance spectroscopy (MRS) along with other potential biomarkers. It is designed to explore developmental domains of interest and to examine the feasibility and utility of various neuropsychological assessments to measure domains of interest, and to identify possible endpoints for interventional studies. Study will also explore genotype-phenotype correlations.

Clinical adverse events will be monitored throughout the study.

This study was previously posted by Lumos Pharma, which has been transferred to Ultragenyx in June 2019.

Study Type

Observational

Enrollment (Actual)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada, M5G 1X8
        • The Hospital for Sick Children
  • United States
    • California
      • La Jolla, California, United States, 92037
        • University of California San Diego
    • Illinois
      • Chicago, Illinois, United States, 60612
        • Rush University Medical Center
    • Maryland
      • Bethesda, Maryland, United States, 20814
        • National Institutes of Health Clinical Center
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • North Carolina
      • Durham, North Carolina, United States, 27710
        • Duke University Medical Center
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Cincinnati Children's Hospital Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
    • Texas
      • Houston, Texas, United States, 77030
        • Texas Children's Hospital
    • Utah
      • Salt Lake City, Utah, United States, 84108
        • University of Utah

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 months to 65 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Probability Sample

Study Population

Community Sample

Description

Inclusion Criteria:

  1. Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
  2. Subject is able to complete study-related procedures.
  3. Subjects' parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the subject will provide an assent.

Exclusion Criteria:

  1. Subject has had status epilepticus within 3 months of screening.
  2. Subject is unable to comply with the study procedures or with a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)
Time Frame: Month 48
Month 48

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ultragenyx Pharmaceutical Inc

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2016

Primary Completion (Actual)

October 24, 2022

Study Completion (Actual)

October 24, 2022

Study Registration Dates

First Submitted

October 5, 2016

First Submitted That Met QC Criteria

October 11, 2016

First Posted (Estimate)

October 13, 2016

Study Record Updates

Last Update Posted (Actual)

November 14, 2022

Last Update Submitted That Met QC Criteria

November 7, 2022

Last Verified

November 1, 2022

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • LUM-001-C-01
  • UX068-CL001 (Other Identifier: Ultragenyx Pharmaceutical Inc)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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