Not Yet RecruitingPhase 1/2

A Phase I/II, First-In-Human Trial to Evaluate the Safety, Tolerability, and Pharmacokinetic Activity to Prevent or Treat Neuropsychiatric Symptoms in Pediatric Subjects With Timothy Syndrome

United States5 participantsStarted 2026-09

Plain-language summary

The goal of this clinical trial is to learn if an antisense oligonucleotide (TS1-ASO) can safely treat and potentially prevent neuropsychiatric and neurodevelopmental symptoms in pediatric participants (age \>2 months) with Timothy Syndrome Type 1 (TS1). The main questions it aims to answer are: 1. Is TS1-ASO safe and well tolerated when administered intrathecally in children with TS1? 2. What are the pharmacokinetics and preliminary efficacy of TS1-ASO on neurodevelopmental and neurologic outcomes? This is a single-arm study (no comparison group). Participants will: 1. Receive intrathecal injections of TS1-ASO via lumbar puncture using a stepwise dose-escalation approach 2. Undergo safety monitoring including neurologic exams, cardiac monitoring, laboratory testing, and adverse event assessments 3. Provide cerebrospinal fluid (CSF) and blood samples for pharmacokinetic and biomarker analyses 4. Complete neurodevelopmental, behavioral, and functional assessments (e.g., adaptive behavior, motor function, communication, seizure tracking) over time

Who can participate

Age range

2 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Confirmed CACNA1C c.1216 G\>A, p.G406R variant in exon 8A (TS1) on exome or genome testing. * Age \> 2 months. Given that neurodevelopmental symptoms start early in TS1 and treatment is predicted to more effectively prevent rather than rescue developmental delay, ASD, and epilepsy, the Sponsor proposes that early treatment is most likely to yield clinical benefit. Exclusion Criteria: * Critical illness including cardiac arrhythmia that is unstable, invasive ventilatory support, sustained hypoglycemia, or active infection. * Diagnosis of a secondary genetic disorder in addition to TS1. * Hypoxic-ischemic injury to \>25% of the brain from prior cardiac arrest. * Age \> 5 years old with absence of any neurologic, developmental, or psychiatric diagnoses, or symptoms on physical exam and intake assessment scales as there would unlikely be a benefit to treatment in the setting of normal cognition and development and lack of epilepsy or other neuropsychiatric diagnoses. * Inability to complete required procedures including anesthesia, magnetic resonance imaging brain, and lumbar puncture (LP). * Participation in another investigational trial within the 90 days prior to first dose, including any gene therapy within the participant's lifetime.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Incidence, frequency, and severity of adverse events (AEs) and serious adverse events (SAEs) from first dose through 12 months of treatment and follow-up.

Timeframe: From the first dose through 12 months of treatment and follow-up.

Trial details

NCT IDNCT07600658

SponsorStanford University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2029-12

Contact for this trial

Sergiu Pasca, MD

(650) 497-5922 spasca@stanford.edu

View on ClinicalTrials.gov More CACNA1C trials