Batten CLN6 Gene Therapy
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|ClinicalTrials.gov Identifier: NCT02725580|
Recruitment Status : Active, not recruiting
First Posted : April 1, 2016
Last Update Posted : May 31, 2019
|Condition or disease||Intervention/treatment||Phase|
|Batten Disease CLN6||Drug: scAVV9.CB.CLN6||Phase 1 Phase 2|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||12 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|
|Study Start Date :||March 2016|
|Estimated Primary Completion Date :||March 2022|
|Estimated Study Completion Date :||March 2023|
Experimental: Cohort 1
Twelve (n=12) Batten CLN6 subjects will receive a single injection of scAAV9.CB.CLN6 via intrathecal delivery. Subjects will receive a total dose of 1.5 x 10^13 vg.
Twelve subjects with diagnosis of CLN6 disease will receive scAVV9.CB.CLN6 administered by intrathecal injection.
- Development of unacceptable toxicity, defined as the occurrence of any one Grade III or higher, unanticipated, treatment-related toxicity. [ Time Frame: 2 years ]This is evaluated based on the development of unacceptable toxicity, defined as the occurrence of any one Grade III or higher, unanticipated, treatment-related toxicity.
- Magnetic resonance imaging to document progression of the disease. [ Time Frame: Baseline and 24 months ]Volumetric imaging to monitor progression of the disease. The investigators will utilize 3D MP-RAGE scan, which is a T1-weighted volumetric scan of the whole brain. Investigators will also include T2 weighted Gradient Echo and diffusion- weighted axial images.
- Cognitive testing [ Time Frame: Baseline, 6 months, 12 months, 24 months ]A retrospective review of cases indicates that language delay and cognitive regression are the earliest manifestations of the disease. The investigators will perform Stanford-Binet for mild, asymptomatic patients.
- Cognitive testing [ Time Frame: Baseline, 6 months, 12 months, 24 months ]A retrospective review of cases indicates that language delay and cognitive regression are the earliest manifestations of the disease. The investigators will perform Mullen scales of Early learning for mild to moderate patients.
- Language Delay [ Time Frame: Baseline, 6 months, 12 months, 24 months ]The investigators will use the Preschool Language scale -5 to monitor language.
- Visual Failure [ Time Frame: ERG: Baseline, Day 30, 12 months, 24 months OCT: Baseline and 24 months ]This will be assessed via electroretinograms (ERG) or ocular computerized tomography.
- EEG Monitoring [ Time Frame: Baseline, 12 months, 24 months ]24 hour EEG long term 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|
|Principal Investigator:||Emily de los Reyes, MD||PI|