Follows people with SLC13A5 deficiency to learn how the disease progresses
Observes people with a rare genetic disorder causing seizures and delays from birth.
Plain-language title generated from the registry record
Registry title: SLC13A5 Deficiency Natural History Study - Remote Only
Key facts
- Where
- Palo Alto, United StatesSee the site
Where in United States
- Lucille Packard Children's Hospital, Stanford UniversityPalo Alto, United StatesNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- TESS Research Foundation
- Trial code
- NCT04681781
- Record updated
- 22 November 2024
- Original description
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.Read full original descriptionShow less
SLC13A5 Deficiency: a Prospective Natural History Study - Remote Only (International)
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.
Inclusion: 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.
Exclusion: The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency; -.