Observational Study of Males With Creatine Transporter Deficiency (Vigilan)

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ClinicalTrials.gov Identifier: NCT02931682

Recruitment Status : Terminated (Sponsor decision not related to safety concerns)

First Posted : October 13, 2016

Last Update Posted : November 14, 2022

View this study on Beta.ClinicalTrials.gov

Sponsor:

Information provided by (Responsible Party):

Ultragenyx Pharmaceutical Inc

Study Description

Brief 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.

Condition or disease
Creatine Deficiency, X-linked

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 Design

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Study Type :	Observational
Actual Enrollment :	50 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	Observational Study of Males With Creatine Transporter Deficiency
Actual Study Start Date :	December 2016
Actual Primary Completion Date :	October 24, 2022
Actual Study Completion Date :	October 24, 2022

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: X-linked creatine deficiency

Genetic and Rare Diseases Information Center resources: X-linked Creatine Deficiency

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

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

Biospecimen Retention: Samples With DNA

Whole blood, cerebrospinal fluid, urine and fibroblasts

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	6 Months to 65 Years (Child, Adult, Older Adult)
Sexes Eligible for Study:	Male
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Community Sample

Criteria

Inclusion Criteria:

Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
Subject is able to complete study-related procedures.
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:

Subject has had status epilepticus within 3 months of screening.
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.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02931682

Locations

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

Sponsors and Collaborators

Ultragenyx Pharmaceutical Inc

Investigators

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Study Director:	Medical Director	Ultragenyx Pharmaceutical Inc

More Information

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Responsible Party:	Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:	NCT02931682
Other Study ID Numbers:	LUM-001-C-01 UX068-CL001 ( Other Identifier: Ultragenyx Pharmaceutical Inc )
First Posted:	October 13, 2016 Key Record Dates
Last Update Posted:	November 14, 2022
Last Verified:	November 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

Keywords provided by Ultragenyx Pharmaceutical Inc:


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

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