SLC13A5 Deficiency Natural History Study - Remote Only
Trial ID or NCT#
NCT04681781
Status
RECRUITING
Purpose
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.
Official Title
SLC13A5 Deficiency: A Prospective Natural History Study - Remote Only (International)
Eligibility Criteria
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Inclusion Criteria:
- 1. Parent(s)/legal representative and/or patient must be willing and able to give informed consent/assent for participation in the study. 2. Males and females of any age are eligible for this study 3. 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. 4. Participant and caregiver must be willing to provide clinical data and participate in standardized assessments.
Exclusion Criteria:
- 1. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency. -
Investigator(s)
Brenda Porter, MD, PhD
Contact us to find out if this trial is right for you.
Contact
Lindsay Chromik
650-497-0226
View on ClinicalTrials.gov
