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.
Conditions
Creatine Deficiency, X-linked
Recruitment Status
Terminated
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.
Eligibility 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.
Gender
Male
Min Age
6 Months
Max Age
65 Years
Download Date
November 14, 2022
Principal Investigator
N/A
Primary Contact Information
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: