Variant Late-Infantile Neuronal Ceroid LipofuscinosisPhase 1/2NCT02725580
Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
A Phase 1/2 study testing AT-GTX-501 in people with Variant Late-Infantile Neuronal Ceroid Lipofuscinosis, run by Emily de los Reyes at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
- What is being tested?
- AT-GTX-501
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 1 siteUnited States
- Study dates
- May 2016to Oct 2024
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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)
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- 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.)
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hosptial
Columbus, Ohio, 43205
About this study
Official title: Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9
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).
Read the 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. Participants 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.
- Being tested
- AT-GTX-501
- Keywords
- Neuronal ceroid lipofuscinosis (NCL), CLN6, vLINCL6, Gene Transfer, CLN6 Batten Disease, Batten Disease
- Medical subject headings
- Ceroid Lipofuscinosis, Neuronal, 6, Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AT-GTX-501Genetic
Also called scAAV9.CB.CLN6
CLN6 Gene delivered by Self-Complementary AAV9
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Genetic: AT-GTX-501 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Up to 38.7 months
Secondary outcomes (5)
Change From Baseline In Hamburg Motor And Language Scores at Month 24
The Hamburg scale is an established tool to capture the rate of decline or regression. This tool was developed to document by rating motor, language, and visual functions in participants with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) Batten disease, and to collect their incidence of grand mal seizures. To assess disease progression and evaluate efficacy, the combined score of the motor and language domains of the Hamburg scale was used. Each domain was scored from 0 (no function) to 3 (normal function) for a maximal possible score of 6 for the combined score, referred to as the Hamburg Motor + Language aggregate score. The rate of decline in Hamburg Motor + Language aggregate, Motor, and Language scores were summarized using descriptive statistics.
Measured: Screening (Day -30 up to -2) up to Month 24
Change From Baseline In Unified Batten Disease Rating Scale (UBDRS) Scores At Month 24
The Unified Batten Disease Rating Scale (UBDRS) was developed to monitor rate of progression. This scale includes assessment of extrapyramidal movement abnormalities and seizures, behavioral and capability assessments (Actual Vision), as well as history relevant to variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6) disease and scoring for global impression of symptom severity. A higher UBDRS subscale score indicated greater physical impairment, with zero indicating a better outcome. Subscales included Physical Assessment (range 0-84), Seizure Assessment (range 0-54), Behavioral Assessment (range 0-55) and Capability Assessment of Actual Vision and Normal Vision (range 0-14). A positive change from baseline score indicates increased impairment and a negative score indicates decreased impairment.
Measured: 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
The Mullen Scales of Early Learning were utilized to assess cognitive and motor ability in 4 areas (visual reception, fine motor, expressive language, and receptive language) in infants and children. Raw scores range from 0-50 for visual reception, 0-49 for fine motor, 0-50 for expressive language, and 0-48 for receptive language. Lower scores from baseline indicated increased developmental delay and higher scores from baseline indicated decreased developmental delay. A positive change from baseline score indicates decreased developmental delay and a negative score indicates increased developmental delay.
Measured: 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
The Preschool Language Scales-5th Edition (PLS-5) (Age-Equivalent) was a comprehensive developmental language assessment. Standard scores from each domain (auditory comprehension, expressive communication, and total language) range from 50-150. Standard scores between 85 and 115 are considered to be within normal limits. Total scores are the sum of standard scores for auditory comprehension and expressive communication, which is then converted to a total standard score using PLS-5 Appendix B. Age-equivalent scores in each area were summarized by study visit with descriptive statistics. Higher scores represent better language development and lower scores reflect a possible language delay or disorder. A positive change from baseline score indicates better language development.
Measured: Screening (Day -30 up to -2) and Month 24
Change From Baseline In Development Profile-3 At Month 24
The Development Profile-3 was used to screen for developmental delays in 5 areas (physical [score range 0-35], adaptive behavior [0-37], social-emotional [0-36], cognitive [0-38], communication [0-34]), where lower scores indicated increased developmental delay. The General Development Score is obtained by adding the sum of standard scores for the five scales together (range 0-180). Standard Score ranges are <70 Delayed, 70-84 Below Average, 85-115 Average, 116-130 Above Average, and >130 Well Above Average. A positive change from baseline score indicates decreased developmental delay and a negative score indicates increased developmental delay.
Measured: Screening (Day -30 up to -2) and Month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2016 (estimated)
- Study startMay 2016
- Primary completionOct 2022
- Study completionOct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Variant Late-Infantile Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Emily de los Reyes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Emily de los Reyes, Nationwide Children's Hospital
- Investigators
- Emily de los Reyes, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02725580
- Sponsor's protocol ID
- AT-GTX-501-01
- Status last verified
- Sep 2025
- First submitted
- 16 Mar 2016
- Last updated
- 24 Oct 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9
- ClinicalTrials.gov ID
- NCT02725580
- Acronym / sponsor ID
- AT-GTX-501-01
- Keywords
- Neuronal ceroid lipofuscinosis (NCL), CLN6, vLINCL6, Gene Transfer, CLN6 Batten Disease, Batten Disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Emily de los ReyesUniversity, hospital or other
- Study start
- May 2016 (actual)
- Primary completion
- Oct 2022 (actual)
- Study completion
- Oct 2024 (actual)
- First posted
- 1 Apr 2016 (estimated)
- Results
- Posted 8 Mar 2023
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
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. Participants 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open Label | Experimental | Genetic: AT-GTX-501Participants with diagnosis of vLINCL6 Batten disease will receive a single intrathecal injection of AT-GTX-501 into the lumbar spinal cord region. |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (16 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AT-GTX-501Also: scAAV9.CB.CLN6CLN6 Gene delivered by Self-Complementary AAV9 | Genetic | Open Label |
Primary outcome
Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs)
Time frame: Up to 38.7 months
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.
5 secondary outcomes
Change From Baseline In Hamburg Motor And Language Scores at Month 24
Time frame: Screening (Day -30 up to -2) up to Month 24
Change From Baseline In Unified Batten Disease Rating Scale (UBDRS) Scores At Month 24
Time frame: 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
Time frame: 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
Time frame: Screening (Day -30 up to -2) and Month 24
Change From Baseline In Development Profile-3 At Month 24
Time frame: Screening (Day -30 up to -2) and Month 24
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Oct 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Emily de los Reyes, MD principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing AT-GTX-501 in people with Variant Late-Infantile Neuronal Ceroid Lipofuscinosis, run by Emily de los Reyes at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 8 Mar 2023). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) (time frame: Up to 38.7 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Oct 2025.