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Gene Therapy

Gene Therapy for Neuronal Ceroid Lipofuscinosis (CLN7 Trial)

Phase 1

Waitlist Available

Led By Benjamin Greenberg, MD

Research Sponsored by Benjamin Greenberg

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

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

1-18 years of age

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, 24 months

Awards & highlights

CLN7 Trial Summary

This trial is to study the safety of a one-time injection of AAV9/CLN7 into the lumbar spinal cord of pediatric patients with CLN7 Batten disease, with the secondary objective of determining efficacy. The trial will assess motor function, cognition, and intelligence, as well as visual impairment, brain MRI, EEG, ECG, and ECHO.

Who is the study for?

This trial is for children aged 1-18 with CLN7 Batten disease, a specific genetic disorder. Participants should have mild to moderate symptoms and be able to perform certain language or motor tasks. They must not require chronic ventilatory support or have other serious health issues that could interfere with the study.Check my eligibility

What is being tested?

The trial tests a gene therapy called AAV9/CLN7 given as a one-time spinal injection in two different doses. It aims to assess the safety of this treatment and its effectiveness on motor skills, cognition, vision, and brain function in kids with CLN7 disease.See study design

What are the potential side effects?

Potential side effects are not explicitly listed but may include reactions at the injection site, changes in liver or pancreatic enzymes levels, blood disorders like anemia or abnormal white cell counts, and any risks associated with MRI scans due to sedation.

CLN7 Trial Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have CLN7 with symptoms starting before I was 4, confirmed by gene testing.

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I am between 1 and 18 years old.

CLN7 Trial Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, 24 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, 24 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, 24 months for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Safety measured by the incidence and severity of treatment related serious adverse events

Secondary outcome measures

Mean change in Neuropsychological state as measured by Mullen scales.

Mean change in Neuropsychological state as measured by Vineland Adaptive Behavior Scales

Mean change in disease burden as measured by Clinical Global Impression Scale (CGI-S)

+7 more

CLN7 Trial Design

1Treatment groups

Experimental Treatment

Group I: AAV9/CLN7Experimental Treatment1 Intervention

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.

0 / 2Eligibility criteria met

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Who is running the clinical trial?

Benjamin GreenbergLead Sponsor

Benjamin Greenberg, MD4.611 ReviewsPrincipal Investigator - University of Texas Southwestern Medical Center

University of Texas Southwestern Medical Center

3 Previous Clinical Trials

145 Total Patients Enrolled

1Patient Review

I was very disappointed by the short amount of time he spent with us and then the long stretch of time until we saw him again. My dad passed away due to complications with his TM because he never received treatment. We spent nearly a year rerunning the same tests that were already done to show he did in fact have TM but by the time we got the results it was too late. I would stay far away from this doctor and his practice. You will just be a number to him and his staff. They have forgotten their patients are husbands, dads, and someone’s loved ones.

Media Library

AAV9/CLN7 (Gene Therapy) Clinical Trial Eligibility Overview. Trial Name: NCT04737460 — Phase 1

Neuronal Ceroid Lipofuscinosis Research Study Groups: AAV9/CLN7

Neuronal Ceroid Lipofuscinosis Clinical Trial 2023: AAV9/CLN7 Highlights & Side Effects. Trial Name: NCT04737460 — Phase 1

AAV9/CLN7 (Gene Therapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT04737460 — Phase 1

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are there opportunities for volunteers to join in this experiment?

"Unfortunately, this medical trial is not recruiting any more volunteers. The study was initially shared on May 4th 2021 and revised last October 1st 2022; however, there are currently one other active clinical trials enrolling patients."

Answered by AI

Has the FDA given its endorsement to AAV9/CLN7?

"Due to the preliminary nature of this trial, AAV9/CLN7's safety rating is a 1. This is because there exists only limited evidence demonstrating its efficacy and security."

Answered by AI

Is the current research enrolling participants aged 60 or above?

"Patients between 1 and 18 years old are currently being enrolled in this research project."

Answered by AI

Who qualifies for participation in this experiment?

"This clinical trial is enrolling 4 participants aged 1-18 with CLN7. The requisite qualifications are as follows: expressive language scores on the Mullen and/or Vineland tests that correspond to a two year old, 20-50 words in their vocabulary capable of forming 2 or 3 word phrases; obtain a score of 2-3 on GMFM subdomain E (i.e., 10 steps forward with hands held); clinically symptomatic cases identified through molecular testing for MFSD8 gene mutations indicating symptom onset prior to age four; patients must not be dependent upon chronic invasive ventilatory support and meet other moderate severity criteria established by"

Answered by AI

Recent research and studies

Journal of Clinical InvestigationJournal

AAV9/MFSD8 Gene Therapy Is Effective in Preclinical Models of Neuronal Ceroid Lipofuscinosis Type 7 Disease

Chen, Xin, Thomas Dong, Yuhui Hu, Frances C. Shaffo, Nandkishore R. Belur, Joseph R. Mazzulli, and Steven J. Gray. 2022. “AAV9/MFSD8 Gene Therapy Is Effective in Preclinical Models of Neuronal Ceroid Lipofuscinosis Type 7 Disease”. Journal of Clinical Investigation. American Society for Clinical Investigation. doi:10.1172/jci146286.

clinicaltrials.govStudy

Study for the Treatment for CLN7 Disease

Benjamin Greenberg 2021. "Study for the Treatment for CLN7 Disease". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT04737460.