SLC13A5 Deficiency Natural History Study - United States Only (NCT06144957) | Clinical Trial Compass
By InvitationNot Applicable
SLC13A5 Deficiency Natural History Study - United States Only
United States17 participantsStarted 2021-12-01
Plain-language summary
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study.
. Males and females of any age are eligible for this study
. Suspected or confirmed diagnosis of SLC135 deficiency with genetic variants in both SLC13A5 alleles and consistent clinical characteristics. Variants of uncertain significance in one or both alleles are acceptable if deemed good candidates by participant's primary geneticist or neurologist and study personnel.
. Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples.
. Willingness to travel to one of the three sites annually is favored, but not required.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: general evaluations
Timeframe: Up to 24 months
2
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: vitals and biometrics evaluations
Timeframe: Up to 24 months
3
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: neurologic evaluation
Timeframe: Up to 24 months
4
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: dental evaluations
Timeframe: Up to 24 months
5
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: clinical and research laboratory studies
Timeframe: Up to 24 months
6
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: electroencephalogram (EEG)
Timeframe: Up to 24 months
7
Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: scoring of movement disorder and SLC13A5 deficiency symptom scales