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

SexALL

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.

What they're measuring

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: general evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: vitals and biometrics evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: neurologic evaluation

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: dental evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: clinical and research laboratory studies

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: electroencephalogram (EEG)

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: scoring of movement disorder and SLC13A5 deficiency symptom scales

Timeframe: Up to 24 months

Trial details

NCT IDNCT06144957

SponsorTESS Research Foundation

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-09-30

View on ClinicalTrials.gov More Citrate Transporter Deficiency trials

Plain-language summary

Who can participate

SexALL

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.

What they're measuring

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: general evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: vitals and biometrics evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: neurologic evaluation

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: dental evaluations

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: clinical and research laboratory studies

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: electroencephalogram (EEG)

Timeframe: Up to 24 months

Detailed phenotyping of the clinical course of SLC13A5 deficiency over time: scoring of movement disorder and SLC13A5 deficiency symptom scales

Timeframe: Up to 24 months