A Phase 1/2 interventional study of AT-GTX-501 in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis, sponsored by Emily de los Reyes. Completed at 1 site in United States. Open to participants aged 1 Year and older. Per ClinicalTrials.gov, last updated 2025-10-24.
Sponsored by Emily de los Reyes · Phase 1/2, Interventional, and Treatment
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Among 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States — 10 open to participants now, 18 under way, none of them phase 3. Neuronal Ceroid-Lipofuscinoses · United States.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, this one is the 8th largest by enrollment of the 20 interventional ones that give a count, is one of 2 that started in 2016, is one of 9 in phase 1/2, and was the 21st registered.
49 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 13 are open to participants now.
Browse Neuronal Ceroid-Lipofuscinoses studies →10 of the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States are open now. Recruiting first, the newest first:
New York Stem Cell Foundation Research Institute · Sites in United States
Ages 30 days+
National Human Genome Research Institute (NHGRI) · Sites in United States
Ages 18–100 · Healthy volunteers
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Sites in United States
Ages 1 wk–100 yrs
Joanne Kurtzberg, MD · Sites in United States
Ages 1 wk–22 yrs
Foundation Fighting Blindness · Sites in United States
Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 11 Neuronal Ceroid-Lipofuscinoses studies recruiting now, 7 (64%) set no upper age limit and 2 (18%) stop at 75 or younger; 10 take children under 18; 2 take healthy volunteers.
This study: 1 Year and older · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
38 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 16 · Phase 2 12 · Phase 3 1 · Phase 4 1
First in 1995; this study’s year is marked. 2 started in 2016.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 13 is close to the median of 13 across 22 interventional studies indexed under Neuronal Ceroid-Lipofuscinoses.
Median enrollment 11 across the 20 interventional studies, 65 across the 18 observational. Of the 19 that completed or were terminated, 8 (42%) have results posted.
This tab as a report to print or save as PDF → With an account.
9 of 38 have an industry lead sponsor. The 10 most frequent:
Emily de los Reyes is the lead sponsor of 5 studies on the registry; 1 is open to participants now.
Emily de los Reyes has 4 studies filed under Neuronal Ceroid-Lipofuscinoses — fewer than ten, so there is no comparison to draw.
5 of the studies in Neuronal Ceroid-Lipofuscinoses with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT04098211Children's Hospital of Orange CountyLongitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients | 2026-12 |
| NCT04273243Emily de los ReyesLong-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer | 2026-12 |
| NCT03285425Emily de los ReyesNatural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae | 2026-12 |
| NCT07582484The Charlotte and Gwenyth Gray FoundationGene Therapy Trial for CLN6 Batten Disease | 2027-08 |
| NCT02254863Joanne Kurtzberg, MDUCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | 2027-10 |
Add all 5 to your calendar (.ics) → With an account.
Among the 38 studies in Neuronal Ceroid-Lipofuscinoses with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
This tab as a report to print or save as PDF → With an account.
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).
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Childbearing potential
Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).
Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Bilirubin
A yellow substance made when red blood cells are broken down, which the liver clears. A high level can mean a problem with the liver or the bile ducts.
Criteria often allow more for people with Gilbert’s syndrome, a harmless inherited condition that raises bilirubin.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
CLN6 Gene delivered by Self-Complementary AAV9
Also known as: scAAV9.CB.CLN6
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.
Time frame: Up to 38.7 months
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.
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
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.
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
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.
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
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.
Time frame: 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.
Time frame: Screening (Day -30 up to -2) and Month 24
| Milestone | AT-GTX-501 |
|---|---|
| Started | 13 |
| Received at least 1 dose of study drug | 13 |
| Completed | 13 |
| Not completed | 0 |
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.
| Participants | AT-GTX-501 |
|---|---|
| Participants with TEAEs | 13 |
| Participants with Grade 3 (Severe) or 4 (Life-threatening) TEAEs | 5 |
| Participants with SAEs | 7 |
| Participants with TESAEs | 7 |
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.
| score on a scale | AT-GTX-501 |
|---|---|
| Motor | 0.71 ± 0.576 |
| Language | 0.32 ± 0.745 |
| Motor + Language Aggregate | 1.03 ± 1.138 |
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.
| score on a scale | AT-GTX-501 |
|---|---|
| Physical Assessment | 16.77 ± 13.953 |
| Seizure Assessment | 2.2 ± 4.49 |
| Behavioral Assessment | -0.4 ± 3.95 |
| Capability Assuming Normal Vision | -1.2 ± 3.96 |
| Capability with Actual Vision | -0.8 ± 4.22 |
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.
| score on a scale | AT-GTX-501 |
|---|---|
| Visual Reception | -9.8 ± 10.94 |
| Fine Motor | -6.8 ± 6.27 |
| Receptive Language | -9.9 ± 10.69 |
| Expressive Language | -7.2 ± 10.74 |
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.
| score on a scale | AT-GTX-501 |
|---|---|
| Auditory Comprehension | -7.8 ± 12.02 |
| Expressive Communication | -3.9 ± 10.21 |
| Total Language Score | -5.7 ± 11.61 |
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.
| score on a scale | AT-GTX-501 |
|---|---|
| Physical | -18.0 ± NA |
| Adaptive Behavior | -42.0 ± NA |
| Social-Emotional | -38.5 ± 14.85 |
| Cognitive | -31.0 ± 11.31 |
| Communication | -19.5 ± 17.68 |
| General Development | -32.0 ± NA |
Collected over Up to 38.7 months. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| AT-GTX-501 | 0/13 (0%) | 7/13 (53.8%) | 13/13 (100%) |
| Event | AT-GTX-501 |
|---|---|
| VomitingGastrointestinal disorders | 2/13 |
| PyrexiaGeneral disorders | 2/13 |
| DehydrationMetabolism and nutrition disorders | 2/13 |
| Abdominal painGastrointestinal disorders | 1/13 |
| Abdominal pain upperGastrointestinal disorders | 1/13 |
| HypersensitivityImmune system disorders | 1/13 |
| Epstein-Barr virus infectionInfections and infestations | 1/13 |
| Gastroenteritis viralInfections and infestations | 1/13 |
| SynovitisMusculoskeletal and connective tissue disorders | 1/13 |
| Myoclonic epilepsyNervous system disorders | 1/13 |
| Event | AT-GTX-501 |
|---|---|
| Upper respiratory tract infectionInfections and infestations | 9/13 |
| VomitingGastrointestinal disorders | 5/13 |
| ConstipationGastrointestinal disorders | 4/13 |
| Viral infectionInfections and infestations | 4/13 |
| SeizureNervous system disorders | 4/13 |
| InsomniaPsychiatric disorders | 4/13 |
| HaematuriaRenal and urinary disorders | 4/13 |
| DiarrhoeaGastrointestinal disorders | 3/13 |
| Back painMusculoskeletal and connective tissue disorders | 3/13 |
| Myoclonic epilepsyNervous system disorders | 3/13 |
Safety population: all participants who were treated with AT-GTX-501.
| Age, Continuous(months) | AT-GTX-501 |
|---|---|
| Mean | 54.6 ± 17.93 |
| Sex: Female, Male(Participants) | AT-GTX-501 |
|---|---|
| Female | 7 |
| Male | 6 |
| Ethnicity (NIH/OMB)(Participants) | AT-GTX-501 |
|---|---|
| Hispanic or Latino | 2 |
| Not Hispanic or Latino | 11 |
| Unknown or Not Reported | 0 |
| Race/Ethnicity, Customized(Participants) | AT-GTX-501 |
|---|---|
| American Indian or Alaska Native | 0 |
| Asian | 0 |
| Black or African American | 1 |
| Native Hawaiian or Other Pacific Islander | 0 |
| White | 9 |
| Multiple | 2 |
| Other | 1 |
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: No
Ran from May 2016 to primary completion in Oct 2022, 77 months.
Results were first posted in Mar 2023, 5 months after primary completion.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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Neuronal Ceroid-Lipofuscinoses →
Emily de los Reyes