Observational Study of Males With Creatine Transporter Deficiency

NCT ID: NCT02931682


Title
Observational Study of Males With Creatine Transporter Deficiency
Purpose
With only limited prospective longitudinal data currently available on Creatine Transporter Deficiency (CTD), its natural history is at present incompletely understood. This international study is designed to provide additional insights into disease progression, to characterize how patients perform on clinical neurodevelopmental assessments, and to evaluate magnetic resonance spectroscopy (MRS) and event-related potentials (ERPs) in patients with CTD.
Details
This is an observational study designed to determine an appropriate clinical assessment battery for males with CTD, and to evaluate 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. This study will consist of a Screening Period, a Baseline period, and Ongoing Assessment Periods. During the Screening Period, subjects will be assessed for study eligibility including verification of existing laboratory evidence of a pathologic mutation at SLC6A8 gene. If genetic evidence is not available, subject genotype will be confirmed. A comprehensive history and physical and neurological examination, including evaluation of growth and dysmorphic features, will be completed for all subjects. During the Baseline Period, the caregiver will be interviewed and study staff will administer scales/questionnaires at the study site. For purpose of this protocol, a duly authorized patient representative (e.g. parent, legal guardian) will be referred to as a caregiver. Biological, physiological and radiographic assessments, including ERP recordings, MRS, skin biopsy, cerebrospinal fluid and blood will be obtained. During the Ongoing Assessment Period, growth assessments and limited physical and neurological examinations will be performed. All scales/questionnaires will be repeated every 24 weeks (± 2weeks) for 24 months either at the study site or with instructions for completion at home. Caregivers will receive a follow‑up telephone call from a study staff member 30 days (±3 days) days after the last visit to collect information on any ongoing issues. Clinical adverse events will be monitored throughout the study.
Conditions
Creatine Deficiency, X-linked
Keywords
Creatine transporter, developmental delay, intellectual disability, X-linked, language, seizure, observational, brain spectroscopy
Source
Lumos Pharma
Sponsors
Lumos Pharma, Premier Research Group plc
Status
Recruiting
Acronym
Last Updated
23 Oct 2016
URL
Official Link
Locations
United States