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Observational Study of Males With Creatine Transporter Deficiency (Vigilan)

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ClinicalTrials.gov Identifier: NCT02931682
Recruitment Status : Recruiting
First Posted : October 13, 2016
Last Update Posted : February 6, 2018
Information provided by (Responsible Party):
Lumos Pharma

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.

Condition or disease
Creatine Deficiency, X-linked

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.

Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Observational Study of Males With Creatine Transporter Deficiency
Study Start Date : October 2016
Estimated Primary Completion Date : September 2020
Estimated Study Completion Date : February 2021

Primary Outcome Measures :
  1. Clinical Global Impression Scale [ Time Frame: 2 years ]
    Clinical rating scale administered by an investigator to all subjects at baseline and repeated every 6 months

  2. Mullen Scales of Early Learning [ Time Frame: 2 years ]
    Neuropsychological instrument administered by an investigator to subjects at baseline and repeated every 6 months

Secondary Outcome Measures :
  1. 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:
  1. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months to 65 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Community Sample

Inclusion Criteria:

  1. Subject is male and between 6 months and 65 years of age, inclusive.
  2. Subject has genomic confirmation of a pathologic mutation in the SLC6A8 gene.
  3. Subject is able to complete study-related procedures.
  4. 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02931682

Contact: Aleksandra Bruchey, PhD patients@lumos-pharma.com
Contact: David Weiner, MD patients@lumos-pharma.com

United States, California
University of California San Diego Recruiting
La Jolla, California, United States, 92037
Contact: Bruce Barshop, MD, PhD         
Contact: David Ashley         
United States, Illinois
Rush University Medical Center Recruiting
Chicago, Illinois, United States, 60612
Contact: Elizabeth Berry-Kravis, MD, PhD         
Contact: Mariana Hernandez         
United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20814
Contact: Simona Bianconi, MD         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Irina Anselm, MD         
Contact: Grace Bazin         
United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Contact: Dwight Koeberl, MD, PhD         
Contact: Crista Walters, RN, MS         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Judith Miller, PhD       patients@lumos-pharma.com   
Contact: Rebecca Podell         
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: V. Reid Sutton, MD         
Contact: Beverly Feldman, RN, MSN         
Sponsors and Collaborators
Lumos Pharma
Principal Investigator: Judith Miller, PhD University of Pennsylvania

Responsible Party: Lumos Pharma
ClinicalTrials.gov Identifier: NCT02931682     History of Changes
Other Study ID Numbers: LUM-001-C-01
First Posted: October 13, 2016    Key Record Dates
Last Update Posted: February 6, 2018
Last Verified: February 2018
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