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Protocol Details

Observational Study of Males with Creatine Transporter Deficiency (CTD)

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

17-CH-0020

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male
Min Age: 2 Years
Max Age: 40 Years

Referral Letter Required

No

Population Exclusion(s)

Female

Keywords

Developmental Delay;
Autism Spectrum Disorder;
Children;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Cognitive Disorder;
Metabolic Disease;
Autism Spectrum Disorder

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

Background:

Creatine Transporter Deficiency (CTD) is a rare condition. It mostly affects males. People that have it often have problems with brain functions. They may have seizures and problems with motor skills. Researchers know very little about CTD, and they want to learn more.

Objectives:

To study how CTD affects patients over time. To identify biomarkers and other measures that could be useful in a future study.

Eligibility:

Males ages 2 40 who have CTD.

Design:

Participants will stay at the NIH Clinical Center for 5 or 6 visits over 2 years. Each visit will last 4 or 5 days. There will be phone follow-ups between visits.

Participants will be screened with:

Physical exam

Neurological exam

Medical history

Performing simple movements.

Assessment of the size of the testicles and appearance of pubertal hair

Throughout the study, participants will wear a watch-like device that records activity level.

At study visits, participants will have:

Repeats of the screening procedures

Questions about how CTD impacts their quality of life

Brain electrical activity test. Sensors will be placed on the head with a gel.

A cap with sensors placed on the head with a gel. They may be asked to do an activity or be shown a stimulus.

Write down their history of seizures

Magnetic resonance spectroscopy. They will lie very still on a stretcher and their head will be inserted into a large tube. They may be sedated.

Cerebrospinal fluid collected through a small needle inserted in the lower back

Blood and skin samples taken

Heart activity tests

Participants will be contacted via phone or email at several points after the study.

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Eligibility

INCLUSION CRITERIA:

A patient will be eligible for study participation if the patient meets all of the following criteria:

1. Patient is male and between 6 months and 65 years of age, inclusive.

2. Patient has a genomic confirmation of a pathologic mutation in the SLC6A8 gene.

3. Patient is able to complete study-related procedures within limitations imposed by condition under study.

4. Patients parents/guardians/caregivers of minors must provide written consent (informed consent) to study-related procedures and, if appropriate, the subject will provide an assent. In subjects over 18 that are unable to provide consent the caregiver may provide consent and if appropriate, the subject will provide assent.

EXCLUSION CRITERIA:

A patient will be excluded from the study if the patient meets any of the following criteria:

1. Patient has had status epilepticus within 3 months of screening.

2. Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Samar N. Rahhal, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 2-5132
10 CENTER DR
BETHESDA MD 20892
(202) 468-1716
rahhalsn@nih.gov

Derek Alexander
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3330
10 CENTER DR
BETHESDA MD 20814
(301) 827-0387
derek.alexander@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT02931682

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