Phase 1 Intrathecal Lumbar Administration of AAV9/CLN7 for Treatment of CLN7 Disease

Who is this study for? Pediatric and young adult patients aged 1 to 18 years with CLN7 Disease
What treatments are being studied? AAV9/CLN7
Status: Active, not recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Phase 1

This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease. This study consists of a one-time injection of AAV9/CLN7. There are two Cohorts with a low dose and a high dose. The primary objective for this clinical study is to evaluate safety. The secondary objective is to determine the efficacy of AAV9/CLN7. The secondary outcome measures include motor, cognition and intelligence assessments. The exploratory outcome measures include visual impairment assessment, cognitive evaluations, Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG) and echocardiogram (ECHO).

Participation Requirements
Sex: All
Minimum Age: 1
Maximum Age: 18
Healthy Volunteers: No

• 1-18 years of age

• Clinically symptomatic patients with diagnosis of CLN7 based upon molecular testing with homozygous or compound heterozygous and pathogenic mutations in MFSD8 gene with symptom onset before age 4

• Patients selected to be included in this study will have no more than moderate severity of the disease and will have to meet the following criteria; Not dependent on chronic invasive ventilatory support AND have either

• Expressive language sub test on Mullen and/or Vineland consistent with an age equivalent score of a 2 year 0 month old. This means they should have 20-50 words (all comprehensible) in their vocabulary and putting 2-3 words phrases in a sentence or,

• Patients can complete and obtain a score of 2-3 on GMFM sub domain E (Walking, Running & jumping) item 67 (ie With 2 hands held can walk 10 steps forward)

• Written informed consent provided by participant/parent/guardian and willingness to participate and comply with all the study related visits and procedures. Assent provided by children 10 -17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them as participants.

United States
Children' Health
Time Frame
Start Date: May 4, 2021
Estimated Completion Date: February 1, 2029
Target number of participants: 4
Experimental: AAV9/CLN7
AAV9/CLN7 is an intrathecally administered AAV9-based gene therapy vector that expresses the fully functional form of MFSD8 under the control of a synthetic promoter. AAV9/CLN7 is designed to achieve stable, potentially life-long expression of MFSD8 in non-dividing cells.~The first participant will receive a low dose of 5X1014 vg, subsequent participants will receive a higher dose of 1x1015 vg of the AAV9/CLN7 agent.
Leads: Benjamin Greenberg

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