Gene Therapy for Children With CLN6 Batten Disease
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|ClinicalTrials.gov Identifier: NCT02725580|
Recruitment Status : Enrolling by invitation
First Posted : April 1, 2016
Last Update Posted : September 13, 2019
|Condition or disease||Intervention/treatment||Phase|
|CLN6 Batten Disease||Genetic: AT-GTX-501||Phase 1 Phase 2|
This is a phase 1/2, open-label, single-dose study of AT-GTX-501 administered intrathecally into the lumbar spinal cord region of patients with mild to moderate CLN6 Batten disease.
This study consists of a one-time injection of AT-GTX-501 with follow-up visits on Day 7, 14, 21, and 30, and every 3 months thereafter, ending at Month 24.
The primary outcome for this clinical study is safety evaluated based on the development of dose limiting toxicity (defined as any unanticipated AE that is considered related to AT-GTX-501 and is Common Terminology Criteria for Adverse Events Grade 3 or higher).
The secondary outcome measures include the modified Hamburg scale, Unified Batten Disease Rating Scale (UBDRS), brain magnetic resonance imaging (MRI), cognitive and language evaluations, Pediatric Quality of Life™ (PedsQL) inventory, ophthalmologic examinations, and long-term monitoring electroencephalograms.
A long-term follow-up safety and efficacy study in subjects with CLN6 Batten disease who received AT-GTX-501 in Study AT-GTX-501-01 is planned (Study AT-GTX-501-02).
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||13 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9|
|Actual Study Start Date :||March 2016|
|Estimated Primary Completion Date :||October 2021|
|Estimated Study Completion Date :||December 2021|
Experimental: Open Label
Batten CLN6 subjects will receive a single injection of AT-GTX-501 (scAAV9.CB.CLN6) via intrathecal delivery.
Subjects with diagnosis of CLN6 Batten disease will receive a single dose of AT-GTX-501 (scAAV9.CB.CLN6).
- Safety evaluation based on the development of dose-limiting toxicity (DLT). [ Time Frame: 24 months ]The DLT is defined as any unanticipated AE that is considered related to AT-GTX-501 and is Common Terminology Criteria for Adverse Events Grade 3 or higher.
- Hamburg Scale [ Time Frame: 24 months ]The Hamburg scale is an established tool to capture the rate of decline or regression.
- Unified Batten Disease Rating Scale (UBDRS) [ Time Frame: 24 months ]The UBDRS scale was developed to monitor rate of progression. This scale includes assessment of extrapyramidal movement behavior and seizures.
- Brain MRI [ Time Frame: 24 months ]Brain MRI is utilized to capture the progression of atrophy.
- The Development Profile (DP-3) [ Time Frame: Baseline, 6 months, 12 months, 24 months ]DP-3 allow you to quickly screen a child for development delays in five key areas. It consists of interview forms and parent/caregiver checklists. The DP-3 includes 180 provides a General Development score as well as the following scale scores including physical, adaptive behavior, social-emotional, cognitive and communication. Each scale has its own norms.
- The Mullen Scale of Early Learning [ Time Frame: Baseline, 6 months, 12 months, 24 months ]An integrated system that assesses language, motor, perceptual abilities, measures cognitive ability and motor development. Mullen Scale of Early Learning includes five scales: Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language.
- Preschool Language Scales - Fifth Edition (PLS-5) (birth to 7 years, 11 months of age) [ Time Frame: Baseline, 6 months, 12 months, 24 months ]The PLS-5 is a comprehensive developmental language assessment with items that range from pre-verbal, interaction-based skills to emerging language to early literacy. Auditory comprehension and expressive communication scales are assessed with hand scoring.
- Pediatric Quality of Life (PedsQL) inventory [ Time Frame: Baseline, 6 months, 12 months, 24 months ]PedsQL has four Scales including Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning. Items are reversed scored and linearly transformed to a 0-100 scale, so that higher scores indicate better Health-Related Quality of Life).
- Visual acuity examination [ Time Frame: 24 months ]An visual acuity test that checks how well you see from a specific distance.
- Visual refraction examination [ Time Frame: 24 months ]Assessment of high-resolution achromatic vision.
- Confrontational visual field examination [ Time Frame: 24 months ]Assessment of peripheral achromatic vision.
- Ocular motility examination [ Time Frame: 24 months ]Assessment of movements and alignment of eyes.
- Pupil examination [ Time Frame: 24 months ]Measurement of size of pupils and their reaction to direct light stimulation.
- Intraocular pressure examination [ Time Frame: 24 months ]Assessment of eye pressure.
- Slit lamp examination [ Time Frame: 24 months ]As part of routine eye exam, the slit lamp examination is also called biomicroscopy.
- Fundus examination [ Time Frame: 24 months ]Assessment of the fundus of the eye.
- EEG video Monitoring [ Time Frame: 24 months ]24 hour EEG long term video monitoring to monitor progression of encephalopathy and epileptiform activity.
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): NCT02725580
|United States, Ohio|
|Nationwide Children's Hosptial|
|Columbus, Ohio, United States, 43205|
|Study Director:||Clinical Research||Amicus Therapeutics|