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Observational Study of Males With Creatine Transporter Deficiency (Vigilan)

This study is currently recruiting participants.
See Contacts and Locations
Verified February 2017 by Lumos Pharma
Premier Research Group plc
Information provided by (Responsible Party):
Lumos Pharma Identifier:
First received: October 5, 2016
Last updated: February 3, 2017
Last verified: February 2017
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.

Creatine Deficiency, X-linked

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Observational Study of Males With Creatine Transporter Deficiency

Resource links provided by NLM:

Further study details as provided by Lumos Pharma:

Primary Outcome Measures:
  • 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

Secondary Outcome Measures:
  • Electroencephalogram [ Time Frame: 2 years ]
    Non-invasive electrophysiological recordings of brain activity administered to all subjects at baseline and repeated every 6 months

Other Outcome Measures:
  • Event Related Potentials [ Time Frame: 2 years ]
    Non-invasive electrophysiological recordings of brain activity administered to all subjects at baseline and repeated every 6 months

Biospecimen Retention:   Samples With DNA
Whole blood, cerebrospinal fluid, urine and fibroblasts

Estimated Enrollment: 50
Study Start Date: October 2016
Estimated Study Completion Date: February 2020
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Detailed Description:

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.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Community Sample

Inclusion Criteria:

  1. Subject is male.
  2. Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
  3. Subject has the ability to complete study-related procedures.
  4. Subjects' parents/guardians/caregivers must provide written consent (informed consent) to study-related procedures (including MRS and any required sedation) and if appropriate, the subject will provide an assent.

Exclusion Criteria:

  1. Subject has had status epilepticus within 3 months of screening.
  2. Subjects 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02931682

Contact: Aleksandra Bruchey, PhD
Contact: David Weiner, MD

United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20814
Contact: Simona Bianconi, MD         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Judith Miller, PhD   
Contact: Rebecca Podell         
Sponsors and Collaborators
Lumos Pharma
Premier Research Group plc
Principal Investigator: Judith Miller, PhD University of Pennsylvania
  More Information

Responsible Party: Lumos Pharma Identifier: NCT02931682     History of Changes
Other Study ID Numbers: LUM-001-C-01
Study First Received: October 5, 2016
Last Updated: February 3, 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Lumos Pharma:
Creatine transporter
developmental delay
intellectual disability
brain spectroscopy

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Mental Retardation, X-Linked
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System processed this record on August 23, 2017