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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 : August 3, 2020
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

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 Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 (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 48 months either at the study site or with instructions for completion at home.

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.

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Study Type : Observational
Estimated Enrollment : 55 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Observational Study of Males With Creatine Transporter Deficiency
Actual Study Start Date : December 2016
Estimated Primary Completion Date : March 2023
Estimated Study Completion Date : April 2023





Primary Outcome Measures :
  1. Clinical Global Impression Scale [ Time Frame: 4 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: 4 years ]
    Neuropsychological instrument administered by an investigator to subjects at baseline and repeated every 6 months


Secondary Outcome Measures :
  1. Electroencephalogram [ Time Frame: 4 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: 4 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, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Community Sample
Criteria

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


Contacts
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Contact: Patients Contact: Patient Advocacy 1-415-483-8800 patientadvocacy@ultragenyx.com
Contact: HCPs Contact: Medical Information 1-888-756-8657 medinfo@ultragenyx.com

Locations
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United States, California
University of California San Diego Recruiting
La Jolla, California, United States, 92037
United States, Illinois
Rush University Medical Center Recruiting
Chicago, Illinois, United States, 60612
United States, Maryland
National Institutes of Health Clinical Center Active, not recruiting
Bethesda, Maryland, United States, 20814
United States, Massachusetts
Boston Children's Hospital Active, not recruiting
Boston, Massachusetts, United States, 02115
United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
United States, Ohio
Cincinnati Children's Hospital Medical Center Terminated
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84108
Canada, Ontario
The Hospital for Sick Children Active, not recruiting
Toronto, Ontario, Canada, M5G 1X8
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Investigators
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Study Director: Medical Director Ultragenyx Pharmaceutical Inc
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Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT02931682    
Other Study ID Numbers: LUM-001-C-01
UX068-CL001 ( Other Identifier: Ultragenyx Pharmaceutical Inc )
First Posted: October 13, 2016    Key Record Dates
Last Update Posted: August 3, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Ultragenyx Pharmaceutical Inc:
Creatine transporter
developmental delay
intellectual disability
X-linked
language
seizure
observational
brain spectroscopy