An Improved Understanding of SLC13A5 Citrate Transporter Disorder Through Blood Pressure, Heart Rate, and Laboratory Assessment Through Medical Records Analysis
Abstract number :
2.097
Submission category :
4. Clinical Epilepsy / 4A. Classification and Syndromes
Year :
2022
Submission ID :
2205000
Source :
www.aesnet.org
Presentation date :
12/4/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:27 AM
Authors :
Tanya Brown, PhD – TESS Research Foundation; Elise Brimble, MS – Invitae; Kirsten Blanco, MS – Stanford University; Kim Nye, AB – Executive Director, TESS Research Foundation; Brenda Porter, MD, PhD – Stanford University
Rationale: SLC13A5 Citrate Transporter Disorder initially presents with seizures starting in the neonatal period. In addition to ongoing seizures, patients have a severe movement disorder, limited expressive language, low-tone, hypodontia and amelogenesis imperfecta. The recessive disorder is caused by loss-of-function variants in SLC13A5 that encodes a sodium-dependent citrate transporter. To better characterize this disorder, we analyzed longitudinal data extracted from medical records, specifically laboratory analytes, growth parameters, and blood pressure and heart rate. To date, this is the first analysis to assess laboratory studies and patient vitals in a cohort of SLC13A5 Citrate Transporter Disorder patients.
Methods: We evaluated data extracted from patient medical records in 15 individuals affected by SLC13A5 Citrate Transporter Disorder. Caregivers of children and adults with a confirmed genetic diagnosis of SLC13A5 Citrate Transporter Disorder were invited to join the TESS Research Foundation SLC13A5 Citrate Transporter Disorder Digital Natural History Study in partnership with Invitae’s Ciitizen. Ciitizen is a patient-centric real world data platform that transforms medical records into structured and normalized clinical datasets. In total, 8077 pages of medical records from 15 individual patients were assessed, representing 115 patient years.
Results: Our initial analysis that patients affected by SLC13A5 Citrate Transporter Disorder had laboratory analyte levels including urea nitrogen, sodium, and potassium within the normal range for age and sex. Interestingly, preliminary results indicate that patients (female: 2-7 y.o., male: 1-2.5 y.o.) had diastolic and systolic blood pressure above the 95th percentile, which gradually decreased during adolescence in both male and female patients. Heart rate was within the normal range for age but mostly above the 50th percentile. Additionally, patients show low weight, but are within normal range for sex and age. There is a trend towards decreased height with age.
Conclusions: Patients affected by SLC13A5 Citrate Transporter Disorder had mostly normal common laboratory studies. Growth parameters for weight and height were within normal limits. Mildly elevated blood pressure and heart rates were found at younger ages but not at older ages. These data provide an improved understanding of SLC13A5 Citrate Transporter Disorder through the use of medical records.
Funding: Chan Zuckerberg Initiative Rare as One Grant
Clinical Epilepsy