Gene Therapy for Children With CLN3 Batten Disease
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03770572|
Recruitment Status : Active, not recruiting
First Posted : December 10, 2018
Last Update Posted : April 12, 2021
|Condition or disease||Intervention/treatment||Phase|
|CLN3 Batten Disease||Genetic: AT-GTX-502||Phase 1 Phase 2|
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 second and third years. 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 firstname.lastname@example.org or +1 609-662-2000.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||7 participants|
|Intervention Model:||Single Group Assignment|
|Intervention Model Description:||
Single Treatment Group (AAV9-CLN3) - 2 Cohort Assignment (Low-dose, High-dose)
Dose escalation in this study will begin with low-dose, determined to be the minimal efficacious dose as determined in non-clinical studies. Dose escalation to a high-dose (2x the minimally effective dose (MED) as evaluated in Cohort 1) will proceed as part of Cohort 2 of the study upon demonstration of safety of the low-dose in Cohort 1 of the study.
|Masking:||None (Open Label)|
|Official Title:||Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9|
|Actual Study Start Date :||November 13, 2018|
|Estimated Primary Completion Date :||June 2023|
|Estimated Study Completion Date :||September 2023|
Experimental: Open-label, single-dose, dose-escalation study of AT-GTX-502
Cohort 1: AT-GTX-502 Low-Dose
Cohort 2: AT-GTX-502 High-Dose
Subjects with diagnosis of CLN3 Batten disease will receive a single dose of AT-GTX-502 at low dose or high dose.
- Safety evaluation based on the development of dose-limiting toxicity (DLT). [ Time Frame: 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. [ Time Frame: 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.
- QOL: Change in Quality of Life (QOL) as determined using the Pediatric Quality of Life (PedsQL™) scale. [ Time Frame: 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. [ Time Frame: 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. [ Time Frame: 36 months ]The clinical global impression subscale includes assessment of motor, seizure, behavioral and cognitive function in NCL subjects.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03770572
|United States, Ohio|
|Nationwide Children's Hospital|
|Columbus, Ohio, United States, 43201|
|Study Director:||Clinical Research||Amicus Therapeutics|