By InvitationNot Applicable

SLC13A5 Deficiency Natural History Study - Remote Only

United States20 participantsStarted 2021-03-01

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 and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

Who can participate

SexALL

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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 SLC13A5 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 and participate in standardized assessments.

What they're measuring

SLC13A5 deficiency motor scale assessments.

Timeframe: Upto 24 months

Developmental assessment at baseline and longitudinally using Vineland 3

Timeframe: Upto 24 months

Seizure burden and semiology

Timeframe: Upto 24 months

Trial details

NCT IDNCT04681781

SponsorTESS Research Foundation

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-12-31

View on ClinicalTrials.gov More Citrate Transporter Deficiency trials