SLC13A5 Deficiency Natural History Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

17 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-12-01

Study Completion Date

2025-09-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

SLC13A5 Deficiency Natural History Study - Remote Only

NCT04681781

Citrate Transporter Deficiency Epilepsy Rare Diseases +7 more

ENROLLING_BY_INVITATION

Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)

NCT01914003

Congenital Sucrase-isomaltase Deficiency (CSID)

COMPLETED

Genetics of Epilepsy and Related Disorders

NCT01858285

Epilepsy Epileptic Encephalopathy

RECRUITING

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

NCT00029965

Neurological Regression Myoclonus Cherry Red Spot +1 more

RECRUITING

Genetics of Familial and Sporadic ALS

NCT00821132

Amyotrophic Lateral Sclerosis (ALS) Familial Amyotrophic Lateral Sclerosis ALS With Frontotemporal Dementia (ALS/FTD) +4 more

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

This is a longitudinal observational study of the natural history of SLC13A5 deficiency for up to 2 years. This study does not involve any therapeutic intervention. The study includes in-person clinical assessments and laboratory analyses including standardized clinical evaluations, neurocognitive and quality of life scales, video movement rating scale, laboratory measurements of blood and urine, EEG capturing wake and sleep, EKG. Additionally, remote assessments in 1st year (every 3 months) and 2nd year (every 4 months) of enrollment will be made and caregiver will be asked to keep a seizure diary for the duration of the study. Personnel having expertise to comprehensively evaluate biological pathways that are perturbed by SLC13A5 deficiency will analyze the collected data. Improved understanding of disease pathogenesis will guide therapeutics and reveal clinical and biomarker endpoints for use in future clinical trials.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Citrate Transporter Deficiency Epilepsy Rare Diseases Movement Disorders Genetic Disorder SLC13A5 Deficiency EIEE25 Kohlschutter-Tonz Syndrome (Non-ROGDI) Citrate Transporter Disorder DEE25

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

\-

Eligible Sex

ALL

Accepts Healthy Volunteers

No