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TerminatedNCT02931682VigilanUpdated Nov 14, 2022

Observational Study of Males With Creatine Transporter Deficiency

An observational study in Creatine Deficiency, X-linked, sponsored by Ultragenyx Pharmaceutical Inc. Terminated at 10 sites in 2 countries. Open to male participants aged 6 Months to 65 Years. Per ClinicalTrials.gov, last updated 2022-11-14.

Sponsored by Ultragenyx Pharmaceutical Inc · Observational

Why this study was terminated
Sponsor decision not related to safety concerns
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
50
Ages
6 Months to 65 Years
Sex
Male
01

Study summary

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.

Read the 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.

02

Conditions studied

  • Creatine Deficiency, X-linked

Keywords

  • Creatine transporter
  • developmental delay
  • intellectual disability
  • X-linked
  • language
  • seizure
  • observational
  • brain spectroscopy
03

In context

Lead sponsor

Ultragenyx Pharmaceutical Inc is the lead sponsor of 63 studies on the registry; 8 are open to participants now.

Of its 13 completed or terminated interventional studies of FDA-regulated products, 11 (85%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
6 Months to 65 Years
Sexes eligible
Male
Accepts healthy volunteers
No
Sampling method
Probability sample

Study population

Community Sample

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

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.
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
50 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)

    Time frame: Month 48

07

Study locations

10 sites
  • University of California San Diego
    La Jolla, California 92037, United States
  • Rush University Medical Center
    Chicago, Illinois 60612, United States
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20814, United States
  • Boston Children's Hospital
    Boston, Massachusetts 02115, United States
  • Duke University Medical Center
    Durham, North Carolina 27710, United States
  • Cincinnati Children's Hospital Medical Center
    Cincinnati, Ohio 45229, United States
  • Children's Hospital of Philadelphia
    Philadelphia, Pennsylvania 19104, United States
  • Texas Children's Hospital
    Houston, Texas 77030, United States
  • University of Utah
    Salt Lake City, Utah 84108, United States
  • The Hospital for Sick Children
    Toronto, Ontario M5G 1X8, Canada
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Nov 14, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT02931682
Lead sponsor
Ultragenyx Pharmaceutical Inc
Responsible party
Sponsor
First posted
Oct 13, 2016
Start date
Dec 2016
Primary completion
Oct 24, 2022
Completion
Oct 24, 2022
Last update
Nov 14, 2022

Study contacts

Medical Director
study director · Ultragenyx Pharmaceutical Inc

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is terminated, as verified in Nov 2022. You cannot join it, but the record below documents what was studied.

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