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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02725580
Recruitment Status : Completed
First Posted : April 1, 2016
Last Update Posted : January 24, 2022
Information provided by (Responsible Party):
Amicus Therapeutics

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 subjects with mild to moderate variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease).

Condition or disease Intervention/treatment Phase
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Genetic: AT-GTX-501 Phase 1 Phase 2

Detailed Description:

This is an open-label, single-dose study of AT-GTX-501 administered by a single intrathecal injection. Safety and efficacy are evaluated over a 2 year period. The efficacy assessments in this study are to evaluate motor, language, visual, and cognitive function, as well as survival and other outcome measures. Subjects are tested at baseline, receive AT-GTX-501 on Day 0, and return for visits on Days 7, 14, 21, and 30, and then every 3 months until Month 24. Following completion of this study, there is a long-term follow up study in which data will continue to be collected (Study AT-GTX-501-02 / NCT04273243).

For more information about this study, please contact Amicus Therapeutics Patient Advocacy at clinicaltrials@amicusrx.com or +1 609-662-2000.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 13 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9
Actual Study Start Date : March 2016
Actual Primary Completion Date : October 2021
Actual Study Completion Date : October 2021

Arm Intervention/treatment
Experimental: Open Label
Subjects with diagnosis of vLINCL6 Batten disease will receive a single intrathecal injection into the lumbar spinal cord region of AT-GTX-501.
Genetic: AT-GTX-501
CLN6 Gene delivered by Self-Complementary AAV9
Other Name: scAAV9.CB.CLN6

Primary Outcome Measures :
  1. Safety evaluation based on the development of dose-limiting toxicity (DLT). [ Time Frame: 24 months ]
    The DLT is defined as any unanticipated AE that is considered related to AT-GTX-501 and is Common Terminology Criteria for Adverse Events Grade 3 or higher.

Secondary Outcome Measures :
  1. Hamburg Scale [ Time Frame: 24 months ]
    The Hamburg scale is an established tool to capture the rate of decline or regression.

  2. Unified Batten Disease Rating Scale (UBDRS) [ Time Frame: 24 months ]
    The UBDRS scale was developed to monitor rate of progression. This scale includes assessment of extrapyramidal movement behavior and seizures.

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

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

Exclusion Criteria:

  1. Presence of another inherited neurologic disease, eg, other forms of Batten disease (also known as NCL) or seizures unrelated to vLINCL6 disease (Subjects with febrile seizures may be eligible at discretion of the investigator.)
  2. Presence of another neurological illness that may have caused cognitive decline (eg, trauma, meningitis, hemorrhage) before screening
  3. Active viral infection (includes HIV or serology positive for hepatitis B or C)
  4. Has received stem cell or bone marrow transplantation for vLINCL6 disease
  5. Contraindications for intrathecal administration of the product or lumbar puncture, such as bleeding disorders or other medical conditions (eg, spina bifida, meningitis, or clotting abnormalities)
  6. Contraindications for magnetic resonance imaging (MRI) scans (eg, cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain)
  7. Episode of generalized motor status epilepticus within 4 weeks before the gene transfer visit (Visit 2)
  8. Severe infection (eg, pneumonia, pyelonephritis, or meningitis) within 4 weeks before the gene transfer visit (Visit 2) (Enrollment may be postponed.)
  9. Has received any investigational medication within 30 days before the gene transfer visit (Visit 2)
  10. Anti-AAV9 antibody titers > 1:50 as determined by ELISA (enzyme-linked immunosorbent assay)
  11. Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol-required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
  12. Pregnancy any time during the study (Any female subject judged by the investigator to be of childbearing potential will be tested for pregnancy.)
  13. Abnormal laboratory values from screening considered clinically significant (gamma glutamyl transferase [GGT] > 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)
  14. Family does not want to disclose subject's study participation with primary care physician and other medical providers.
  15. 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.)
  16. Has 2 consecutive abnormal liver tests at screening (> 2 times the upper limit of normal). Liver enzymes will be re-tested once if abnormal upon initial screening.

Information from the National Library of Medicine

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

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United States, Ohio
Nationwide Children's Hosptial
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Amicus Therapeutics
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Study Director: Clinical Research Amicus Therapeutics
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Responsible Party: Amicus Therapeutics
ClinicalTrials.gov Identifier: NCT02725580    
Other Study ID Numbers: AT-GTX-501-01
First Posted: April 1, 2016    Key Record Dates
Last Update Posted: January 24, 2022
Last Verified: January 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Amicus Therapeutics:
Neuronal ceroid lipofuscinosis (NCL)
Gene Transfer
CLN6 Batten Disease
Batten Disease
Additional relevant MeSH terms:
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Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases