SLC13A5 Deficiency Natural History Study - United States Only

Launched by TESS RESEARCH FOUNDATION · Nov 17, 2023

Keywords

ClinConnect Summary

The SLC13A5 Deficiency Natural History Study is focusing on a rare genetic disorder called SLC13A5 deficiency, which causes developmental delays and seizures starting in the first few days of life. This study aims to better understand how the disease progresses over time and to identify important clinical signs and biological markers that can be used in future clinical trials. Researchers are currently looking for participants, including individuals of any age who have a confirmed or suspected diagnosis of this disorder.

To be eligible for the study, participants or their guardians must be willing to provide informed consent and share information about their health. They need to have specific genetic changes associated with SLC13A5 deficiency and be ready to take part in assessments and provide biological samples. While it’s preferred for participants to visit one of the study sites once a year, it is not mandatory. This trial will help gather valuable information that could lead to better treatments for those affected by this condition in the future.

Gender

ALL

Eligibility criteria

• 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 SLC135 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, participate in standardized assessments, and provide biological samples.
• • 5. Willingness to travel to one of the three sites annually is favored, but not required.
• Exclusion Criteria:
• • 1. The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of SLC13A5 deficiency.
• • -