Gene Therapy Trial for CLN6 Batten Disease

Phase 1/2b Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Batten Disease), Delivering the CLN6 Gene by Self-Complementary AAV9

The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis). The main questions it aims to answer are if he gene therapy safe and well tolerated, and if the gene therapy help slow disease progression or improve symptoms.

Participants will:

Receive a single dose of the gene therapy through an injection into the fluid around the spinal cord (intrathecal administration) Have regular study visits over 2 years for safety checks and assessments of disease progression Be followed for an additional 3 years in a long-term follow-up study

Study Overview

• Status: Not yet recruiting
• Conditions: Batten Disease; Neuronal Ceroid Lipofuscinosis; Neuronal Ceroid Lipofuscinosis CLN6; CLN6; Batten's Disease
• Intervention / Treatment: Drug: scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes)

• Study Type: Interventional
• Enrollment (Estimated): 12
• Phase: Phase 2; Phase 1

Contacts and Locations

• Study Contact: Name: Tiffany M Sepp; Phone Number: 617-710-0770; Email: tiffany@vanguardclinical.com

Study Locations

• United States
  • California
    • La Jolla, California, United States, 92093
      • University of California, San Diego - Rady Children's
      • Contact: Olivia Kim-McManus, MD; Phone Number: x224550 858-576-1700; Email: okimmcmanus@health.ucsd.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Diagnosis of CLN6
• At least 4 months old

Exclusion Criteria:

• Presence of another inherited neurologic disease
• Prior stem cell transplantation
• Prior gene transfer, gene editing, or viral vector therapy

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Treatment group	Drug: scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes); self-complementary adeno-associated viral vector, serotype 9 (scAAV9), which contains the human CLN6 gene under the control of a hybrid CMV/CB promoter

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Treatment-Emergent Adverse Events as Assessed by CTCAE Version 5.0	Treatment-emergent adverse events, including serious adverse events, hospitalizations, deaths, clinically significant laboratory abnormalities, and other clinically significant safety findings will be recorded from informed consent through Month 24. Adverse events will be assessed for intensity using CTCAE version 5.0 and for relationship to scAAV9.CB.CLN6. The number and percentage of participants with treatment-emergent adverse events will be summarized.	From informed consent through Month 24

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change From Baseline in Hamburg Rating Scale Score	The Hamburg Rating Scale will be used to assess disease status and function in participants with CLN6 disease. Change from baseline in Hamburg Rating Scale score will be summarized at scheduled post-baseline visits.	Baseline, Day 28, Month 3, Month 6, Month 9, Month 12, Month 18, and Month 24
Change From Baseline in Weill-Cornell Late Infantile Neuronal Ceroid Lipofuscinosis Scale Score	The Weill-Cornell Late Infantile Neuronal Ceroid Lipofuscinosis Scale will be used to assess disease status and function in participants with CLN6 disease. Change from baseline in Weill-Cornell Scale score will be summarized at scheduled post-baseline visits.	Baseline, Day 28, Month 3, Month 6, Month 9, Month 12, Month 18, and Month 24

Collaborators and Investigators

• Sponsor: The Charlotte and Gwenyth Gray Foundation
• Collaborators: University of California, San Diego

Study record dates

Study Major Dates

• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): August 1, 2028

Study Registration Dates

• First Submitted: April 20, 2026
• First Submitted That Met QC Criteria: May 8, 2026
• First Posted (Actual): May 13, 2026

Study Record Updates

• Last Update Posted (Actual): May 14, 2026
• Last Update Submitted That Met QC Criteria: May 12, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: CLN6; Neuronal Ceroid Lipofuscinosis; Batten; CLN6 Batten; Batten's
• Additional Relevant MeSH Terms: Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Lipid Metabolism Disorders; Lipid Metabolism, Inborn Errors; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Neuronal Ceroid-Lipofuscinoses
• Other Study ID Numbers: CGGF-CLN6-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No