Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder

Inclusion Criteria: * Male and females between the ages of 2 to 9 and 10 to 20 years at the time of screening * Confirmed diagnosis of SLC13A5 citrate transporter disorder by genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the SLC13A5 gene * Clinical features consistent with SLC13A5 citrate transporter disorder * Written informed consent provided by subject/parent/guardian and willingness to participate and comply with all the study related visits and procedures. Assent provided by children 10 to 17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them. * Subjects able to reproduce must use a barrier method of contraception for the first 12 months after dosing as well as at least one additional highly effective birth control method if sexually active Exclusion Criteria: * Inability to participate in study procedures (as determined by the site investigator) * Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics * History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy * Inability to be safely sedated in the opinion of the clinical anesthesiologist * Active infection, at the time of dosing, based on clinical observations * Concomitant illness or requirement for chronic drug treatment that in the opi…