Observational Study of Males With Creatine Transporter Deficiency

Creatine Deficiency, X-linked Clinical Trial

— Vigilan  

Official title:

Observational Study of Males With Creatine Transporter Deficiency

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02931682
• Other study ID #: LUM-001-C-01
• Secondary ID: UX068-CL001
• Status: Terminated
• Start date: December 2016
• Est. completion date: October 24, 2022

Study information

• Verified date: November 2022
• Source: Ultragenyx Pharmaceutical Inc
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 50
• Est. completion date: October 24, 2022
• Est. primary completion date: October 24, 2022
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 6 Months to 65 Years

Eligibility

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.

Related Conditions & MeSH terms

• Creatine Deficiency, X-linked

Locations

Country	Name	City	State
Canada	The Hospital for Sick Children	Toronto	Ontario
United States	National Institutes of Health Clinical Center	Bethesda	Maryland
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Rush University Medical Center	Chicago	Illinois
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Duke University Medical Center	Durham	North Carolina
United States	Texas Children's Hospital	Houston	Texas
United States	University of California San Diego	La Jolla	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	University of Utah	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
Ultragenyx Pharmaceutical Inc

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change Over Time Through Month 48 in the Bayley Scales of Infant and Toddler Development, 4th Edition (Bayley-4)		Month 48