Observational Study of Males With Creatine Transporter Deficiency (Vigilan)

Ultragenyx

Status: Terminated

Conditions: Creatine Deficiency, X-linked

Study type: Observational

Funder types: Industry

Identifiers

NCT02931682

UX068-CL001 (Other Identifier)

LUM-001-C-01

Details and patient eligibility

About

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.

Full 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.

Enrollment: 50 patients

Sex: Male

Ages: 6 months to 65 years old

Volunteers: No Healthy Volunteers

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.