Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease

NCT02725580 | Completed Phase 1 Results DMC FDA Drug

• 1 other identifier: AT-GTX-501-01
• Study Type: interventional
• Target: 13
• Locations: 1 country
• Sites: 1

Brief Summary

This is a phase 1/2, open-label, single dose study to evaluate the safety and efficacy of AT-GTX-501 delivered intrathecally into the lumbar spinal cord region of participants with mild to moderate variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease).

Conditions

Variant Late-Infantile Neuronal Ceroid Lipofuscinosis

Keywords

Neuronal ceroid lipofuscinosis (NCL); CLN6; vLINCL6; Gene Transfer; CLN6 Batten Disease; Batten Disease

Outcome Measures

Primary Outcomes (1)

• Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs)

  An adverse event (AE) is defined as any untoward medical occurrence in a participant administered a pharmaceutical product, biologic, or medical device (medicinal products). An SAE is an AE occurring during any study phase (for example, baseline, treatment, or follow-up) that fulfils any of the following: results in death; is life-threatening; requires inpatient hospitalization or prolongs existing hospitalization; results in persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; and results in a congenital anomaly/birth defect. All AEs that occurred after receipt of AT-GTX-501 are classified as TEAEs. A summary of serious and all other non-SAEs, regardless of causality, is located in the Reported Adverse Events module.

  Up to 38.7 months

Secondary Outcomes (5)

• Change From Baseline In Hamburg Motor And Language Scores at Month 24

  Screening (Day -30 up to -2) up to Month 24

• Change From Baseline In Unified Batten Disease Rating Scale (UBDRS) Scores At Month 24

  Screening (Day -30 up to -2) and Day 30 up to Month 24

• Change From Baseline In Mullen (Age-Equivalent) Scales Of Early Learning At Month 24

  Screening (Day -30 up to -2) and Month 24

• Change From Baseline In Preschool Language Scales-5th Edition (PLS-5) (Age-Equivalent) At Month 24

  Screening (Day -30 up to -2) and Month 24

• Change From Baseline In Development Profile-3 At Month 24

  Screening (Day -30 up to -2) and Month 24

Study Arms (1)

Open Label

EXPERIMENTAL

Participants with diagnosis of vLINCL6 Batten disease will receive a single intrathecal injection of AT-GTX-501 into the lumbar spinal cord region.

Genetic: AT-GTX-501

Interventions

AT-GTX-501 GENETIC

CLN6 Gene delivered by Self-Complementary AAV9

Also known as: scAAV9.CB.CLN6

Open Label

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Diagnosis of vLINCL6 disease determined by genotype available at screening
• A score of ≥ 3 on the quantitative clinical assessment of the Hamburg motor-language aggregate scale at screening
• Aged ≥ 1 year
• Ambulatory or able to walk with assistance

You may not qualify if:

• Presence of another inherited neurologic disease, for example, other forms of Batten disease (also known as NCL) or seizures unrelated to vLINCL6 disease (participants with febrile seizures may be eligible at discretion of the investigator.)
• Presence of another neurological illness that may have caused cognitive decline (for example, trauma, meningitis, hemorrhage) before screening
• Active viral infection (includes human immunodeficiency virus or serology positive for hepatitis B or C)
• Has received stem cell or bone marrow transplantation for vLINCL6 disease
• Contraindications for intrathecal administration of the product or lumbar puncture, such as bleeding disorders or other medical conditions (for example, spina bifida, meningitis, or clotting abnormalities)
• Contraindications for magnetic resonance imaging scans (for example, cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain)
• Episode of generalized motor status epilepticus within 4 weeks before the gene transfer visit (Visit 2)
• Severe infection (for example, pneumonia, pyelonephritis, or meningitis) within 4 weeks before the gene transfer visit (Visit 2) (Enrollment may be postponed.)
• Has received any investigational medication within 30 days before the gene transfer visit (Visit 2)
• Anti-AAV9 antibody titers \> 1:50 as determined by enzyme-linked immunosorbent assay
• Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the participant's ability to comply with the protocol-required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability
• Pregnancy any time during the study (Any female participant judged by the investigator to be of childbearing potential will be tested for pregnancy.)
• Abnormal laboratory values from screening considered clinically significant (gamma glutamyl transferase \> 3 times the upper limit of normal, bilirubin ≥ 3.0 mg/dL, creatinine ≥ 1.8 mg/dL, hemoglobin \< 8 or \> 18 g/dL, white blood cells \> 15,000 per cmm)
• Family does not want to disclose participant's study participation with primary care physician and other medical providers.
• History of or current chemotherapy, radiotherapy, or other immunosuppression therapy within the 30 days preceding screening (Corticosteroid treatment may be permitted at the discretion of the investigator.)

Sponsors & Collaborators

• Emily de los Reyes: lead

Study Sites (1)

Nationwide Children's Hosptial

Columbus, Ohio, 43205, United States

Location

MeSH Terms

Conditions

Ceroid Lipofuscinosis, Neuronal, 6; Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Limitations and Caveats

Due to the nature of the disease, coupled with the impact of a global pandemic, adjustments were made to the study design to prioritize collection of primary safety and efficacy data, including development assessments through remote telehealth visits. The results of this data are presented in this posting.

Results Point of Contact

• Title: Amicus Therapeutics Patient Advocacy
• Organization: Amicus Therapeutics

clinicaltrials@amicusrx.com

+1 609-662-2000

Study Officials

• Emily de los Reyes, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Dr. Emily De Los Reyes

Study Record Dates

• First Submitted: March 16, 2016
• First Posted: April 1, 2016
• Study Start: May 1, 2016
• Primary Completion: October 1, 2022
• Study Completion: October 1, 2024
• Last Updated: October 24, 2025
• Results First Posted: March 8, 2023

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)