Natural history of SLC13A5 deficiency in patients
SLC13A5 Deficiency: a Prospective Natural History Study - United States Only
This study looks at how SLC13A5 deficiency affects people over time to better understand the condition and help with future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 17 (estimated) |
| Sex | All |
| Sponsor | TESS Research Foundation Academic / other |
| Locations | 3 sites (Palo Alto, California and 2 other locations) |
| Trial ID | NCT06144957 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the natural progression of SLC13A5 deficiency, a rare genetic disorder that leads to neurodevelopmental delays and seizures. Over a period of up to two years, participants will undergo in-person clinical assessments, laboratory analyses, and remote evaluations to gather comprehensive data on their condition. The study aims to identify clinical and biomarker endpoints that can inform future clinical trials, enhancing the understanding of the disease's pathogenesis without any therapeutic intervention.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a suspected or confirmed diagnosis of SLC13A5 deficiency and willing to participate in assessments and provide biological samples.
Not a fit: Patients with a second confirmed disorder affecting neurodevelopment or with overlapping symptoms of SLC13A5 deficiency may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights into SLC13A5 deficiency that may lead to improved therapeutic strategies in the future.
How similar studies have performed: While this study is focused on a rare genetic disorder, similar observational studies have successfully contributed to understanding other rare diseases, indicating potential for valuable insights here.
Eligibility criteria
Show full inclusion / exclusion 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. -
Where this trial is running
Palo Alto, California and 2 other locations
- Lucille Packard Children's Hospital, Stanford University — Palo Alto, California, United States (Recruiting)
- Brown University — Providence, Rhode Island, United States (Recruiting)
- University of Texas Southwestern Dallas — Dallas, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Brenda E Porter, MD, PhD — Stanford University
- Study coordinator: Rayann Solidum
- Email: rsolidum@stanford.edu
- Phone: 650-497-0226
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.