Observational Study of Males With Creatine Transporter Deficiency



Status:Recruiting
Healthy:No
Age Range:Any - 65
Updated:10/17/2018
Start Date:December 2016
End Date:April 2023
Contact:Aleksandra Bruchey, PhD
Email:patients@lumos-pharma.com

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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.

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 48
months either at the study site or with instructions for completion at home.

Clinical adverse events will be monitored throughout the study.

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.
We found this trial at
10
sites
300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229
 1-513-636-4200 
Cincinnati Children's Hospital Medical Center Patients and families from across the region and around the...
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Cincinnati, OH
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
University of Utah Research is a major component in the life of the U benefiting...
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Salt Lake City, UT
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9000 Rockville Pike
Bethesda, Maryland 20892
301-496-2563
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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Bethesda, MD
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1653 W. Congress Parkway
Chicago, Illinois 60612
(312) 942-5000
Rush University Medical Center Rush University Medical Center encompasses a 664-bed hospital serving adults and...
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Chicago, IL
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2301 Erwin Rd
Durham, North Carolina 27710
919-684-8111
Duke Univ Med Ctr As a world-class academic and health care system, Duke Medicine strives...
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Durham, NC
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6621 Fannin St
Houston, Texas 77030
(832) 824-1000
Texas Children's Hospital Texas Children's Hospital, located in Houston, Texas, is a not-for-profit organization whose...
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Houston, TX
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9500 Gilman Dr
La Jolla, California 92093
(858) 534-2230
The University of California, San Diego UC San Diego is an academic powerhouse and economic...
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La Jolla, CA
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555 University Avenue
Toronto, Ontario M5G 1X8
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Toronto,
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