Gene Therapy for Children With CLN3 Batten Disease
- Conditions
- CLN3Batten Disease
- Interventions
- Genetic: High dose AT-GTX-502Genetic: Low dose AT-GTX-502
- Registration Number
- NCT03770572
- Lead Sponsor
- Amicus Therapeutics
- Brief Summary
This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the safety and efficacy of AT-GTX-502 (previous NCH Code: scAAV9.P546.CLN3) delivered intrathecally into the lumbar spinal cord region of subjects with CLN3 Batten disease.
- Detailed Description
This is a phase 1/2, open-label, single-dose, dose-escalation study of AT-GTX-502 administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN3 Batten disease.
This study consists of a one-time injection of AT-GTX-502 with follow-up visits on Day 7, 14, 21, and 30, followed by every 3 months through 1 year post-dose, and then every 6 months through the fifth year. There are two Cohorts with a low dose and a high dose.
The primary outcome for this clinical study is to evaluate safety. The co-primary objective is to determine the efficacy of AT-GTX-502 as measured by United Batten Disease Rating Scale (UBDRS) physical subscale.
The secondary outcome measures include Pediatric Quality of Life (PedsQL) inventory, seizure subscale of the UBDRS and global impression subscale of the UBDRS.
The exploratory outcome measures include visual impairment assessment, cognitive evaluations, Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG) and echocardiogram (ECHO).
For more information about this study, please contact Amicus Therapeutics Patient Advocacy at clinicaltrials@amicusrx.com or +1 609-662-2000.
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 7
Not provided
Not provided
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Cohort 2: AT-GTX-502 High-Dose High dose AT-GTX-502 No more than 10 mL of 1.2 x 1014 vg of AT-GTX-502 administered via intrathecal injection Cohort 1: AT-GTX-502 Low-Dose Low dose AT-GTX-502 No more than 5 mL of 6 x 1013 vg AT-GTX-502 administered via intrathecal injection
- Primary Outcome Measures
Name Time Method Safety evaluation based on the development of dose-limiting toxicity (DLT). 36 Months The DLT is defined as any unanticipated AE that is considered related to AT-GTX-502 and is Common Terminology Criteria for Adverse Events Grade 3 or higher.
Efficacy: Change in rating as determined using the Unified Batten Disease Rating Scale (UBDRS) rating scale. 36 months The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities. The "Physical Assessment" is a 20 item subscale that measures vision, speech, motor strength, gait, abnormal involuntary movements and balance. Each item has a score range of 0 to 4. The minimum score is 0 and the maximum score is 112. The items are summed up to obtain a total score.The higher the score, the more severe the disability and worse the outcome.
- Secondary Outcome Measures
Name Time Method QOL: Change in Quality of Life (QOL) as determined using the Pediatric Quality of Life (PedsQL™) scale. 36 months The PedsQL is used to assess physical, emotional, social, and school functioning of pediatric subjects in ranging from 2 years to 18 years of age.
Seizures: Change is seizure subscore as determined using Seizure subscale of the UBDRS scale. 36 months The UBDRS seizure subscale is used to assess seizure history, type, frequency, duration, and frequency of seizure-related injury.
Global impression: Change in disease severity using the UBDRS clinical global impression (CGI) subscale. 36 months The clinical global impression subscale includes assessment of motor, seizure, behavioral and cognitive function in NCL subjects.
Trial Locations
- Locations (1)
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States