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

Part of paid clinical trials in Stanford, California.

Sponsor
Stanford University
Study ID
NCT07600658
Phase
PHASE1/PHASE2
Status
Not Yet Recruiting

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Conditions

  • CACNA1C

Eligibility Criteria

Sex
ALL
Age
2 Months - N/A
Healthy Volunteers
Not accepted

Interventions

  • TS1-ASO — DRUG
    Antisense oligonucleotide targeting CACNA1C exon 8A/8 splicing

Study Details

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

Key Dates

Start date
Sep 30, 2026
Status verified
May 2026
Primary completion
Dec 31, 2029
Completion
Dec 31, 2030

Study Design

Enrollment
5 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
PREVENTION

Arms

  • Experimental: TS1-ASO Arm
    TS1-ASO Drug Administration

Primary Outcome Measure

Incidence, frequency, and severity of adverse events (AEs) and serious adverse events (SAEs) from first dose through 12 months of treatment and follow-up. [ Time Frame: From the first dose through 12 months of treatment and follow-up. ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Stanford UniversityStanfordCalifornia94305
Rebecca Levy, MD, PhD
[email protected]
(650) 497-5922

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By research site
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