SLC13A5 Citrate Transporter Disorder Caregivers Identify Seizures, Movement Disorder, and Communication as Top Symptoms to Address in the Patient Community
Abstract number :
3.51
Submission category :
2. Translational Research / 2E. Other
Year :
2024
Submission ID :
1583
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Tanya Brown, PhD – TESS Research Foundation
Amber Black, BA – TESS Research Foundation
Kim Nye, AB – TESS Research Foundation
Rationale: Loss of function variants in the SLC13A5 gene cause a debilitating disease, SLC13A5 citrate transporter disorder, initially identified by seizures starting within the first days of life. In addition to frequent seizures, patients affected by SLC13A5 citrate transporter disorder have a severe movement disorder, limited verbal communication skills, low-tone, as well as hypodontia and amelogenesis imperfecta. This disorder is caused by loss-of-function variants in SLC13A5 that encodes for a sodium-dependent citrate transporter, NaCT. This ultrarare disorder was initially described in 2014 and there are currently no approved treatments for this disorder. In order to determine high priority symptoms that impact the community, SLC13A5 caregivers completed a survey to identify clinical symptoms and share symptoms that are important to families.
Methods: Parents and caregivers of those with a diagnosis of SLC13A5 citrate transporter disorder with genetic variants in both SLC13A5 alleles and consistent clinical characteristics to participate in a survey to identify which symptoms are commonly found in the SLC13A5 citrate transporter disorder community. Participants were identified through the TESS Research Foundation patient registry and a private facebook page. The survey collected data based on participant recall and included both multiple choice and free response questions.
Results: Nineteen SLC13A5 caregivers identified symptoms that affected their SLC13A5 citrate transporter disorder loved one. Significantly, 32% of caregivers identified communication as the one symptom they would improve in their loved one, while 26% of caregivers identified seizure control and 26% of caregivers identified movement as their top priority symptom to address. Additionally, over 70% of caregivers identified a movement disorder, ataxia, and hypotonia as symptoms affecting their loved one and 53% of caregivers stated that their loved one used a wheelchair or adaptive stroller as the primary means of mobility. A majority of caregivers indicated delayed language development impacting their loved one and many were nonverbal. Significantly, half of caregivers indicated their loved one used assistive communication devices.
Conclusions: These results indicate that in addition to seizures, movement and communication are high priority symptoms that impact the SLC13A5 citrate transporter disorder community. It will be important to study and describe the movement disorder and communication challenges in the SLC13A5 citrate transporter disorder community. It will also be important to use this data to inform high priority needs for therapeutic development and development of appropriate endpoints to use in future clinical trials.
Funding: This project was partially funded through a Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington PCORI Engagement Award (EASO-30273).
Translational Research