Clinical Trial: Observational Study of Males With Creatine Transporter Deficiency

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Observational Study of Males With Creatine Transporter Deficiency

Brief Summary: 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.

Detailed Summary:

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. 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, urine 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 6 months (± 2 weeks) for 24 months either at the study site or with instructions for completion at home.

Clinical adverse events will be monitored throughout the study.


Sponsor: Lumos Pharma

Current Primary Outcome:

  • Clinical Global Impression Scale- Severity [ Time Frame: 2 years ]
    Clinical rating scale administered by an investigator to all subjects at baseline and repeated every 6 months
  • Mullen Scales of Early Learning [ Time Frame: 2 years ]
    Neuropsychological instrument administered by an investigator to all subjects at baseline and repeated every 6 months


Original Primary Outcome:

  • Clinical Rating Scale [ Time Frame: 2 years ]
    Clinical Global Impression Scale-Severity
  • Neuropsychological instrument [ Time Frame: 2 years ]
    Mullen Scales of Early Learning


Current Secondary Outcome: Electroencephalogram [ Time Frame: 2 years ]

Non-invasive electrophysiological recordings of brain activity administered to all subjects at baseline and repeated every 6 months


Original Secondary Outcome: Electroencephalogram [ Time Frame: 2 years ]

Non-invasive physiological assessment of brain activity


Information By: Lumos Pharma

Dates:
Date Received: October 5, 2016
Date Started: October 2016
Date Completion: February 2020
Last Updated: February 3, 2017
Last Verified: February 2017