Protocol Details
Observational Study of Males with Creatine Transporter Deficiency (CTD)
This study is NOT currently recruiting participants.
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.
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.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT02931682Protocol Details
Observational Study of Males with Creatine Transporter Deficiency (CTD)
This study is NOT currently recruiting participants.
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.
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.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT02931682