Neuronal Ceroid Lipofuscinosis Type 2Phase 1/2NCT05152914
Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2
A Phase 1/2 study testing Cerliponase Alfa in people with Neuronal Ceroid Lipofuscinosis Type 2, run by David L Rogers, MD at 1 site in United States.
Trial summary
This is a phase I/II randomized, masked, clinical trial to determine the safety and efficacy of intravitreal administration of cerliponase alfa. Read more about this study
- Who is it for?
- Ages 24 to 72 months
- Conditions the study is for
- Neuronal Ceroid Lipofuscinosis Type 2
- What is being tested?
- Cerliponase Alfa
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2021to 6 Mar 2027
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
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 24 to 72 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Genotypic confirmation of classical CLN2 Batten's disease from a CLIA certified lab.
- Enzyme level deficiency of tripeptidyl-peptidase
- Minimum age requirement: 24 months of age at enrollment
- Maximum age requirement: 72 months of age at enrollment
- Currently receiving intraventricular cerliponase alfa
- Willing to participate in the proposed study visits over the 2-year period
Show all 9Show fewer
- Minimum central retinal thickness (CRT) of 140μm based upon OCT assessment
- Clear ocular media
- No ocular pathology present to account for vision loss other than optic atrophy and pigmentary retinopathy that is felt to be due to the CLN2 disease process
Who cannot join
- Any opacities in the clear ocular media including vitreous debris.
- History of ocular trauma or prior ocular surgery.
- Episode of generalized motor status epilepticus within four weeks before the First Dose visit
- Severe infection (e.g., upper respiratory tract infection, pneumonia, pyelonephritis, or meningitis) within four weeks before the First Dose visit (enrollment may be postponed)
- Those with a history of bleeding disorders.
- History of or current chemotherapy, radiotherapy or other immunosuppression therapy within the past 30 days (corticosteroid treatment may be permitted at the discretion of the PI)
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
This is a phase I/II randomized, masked, clinical trial to determine the safety and efficacy of intravitreal administration of cerliponase alfa.
Read the detailed description
This is a Phase I/II study for 5 subjects receiving an intravitreal injection of cerliponase alfa under sedation into the proclaimed study eye(s) in a 4-week interval over 24 months. This study will be monitored by a Data Safety Monitoring Committee (DSMB). Each subject will participate in the ongoing study for an active period of 2 years. Subjects will then transfer to a bi-annual monitoring program where data will be collected from bi-annual standard of care visits for an additional 3 years.
- Conditions
- Neuronal Ceroid Lipofuscinosis Type 2
- Being tested
- Cerliponase Alfa
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cerliponase AlfaDrug
Also called Brineura
Brineura is a hydrolytic lysosomal N-terminal tripeptidyl peptidase indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency.
| Study group | Role | What they receive |
|---|---|---|
| Intervention | Experimental | Not described Receives: Drug: Cerliponase Alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Monitoring for the development of unacceptable toxicity.
Based on the development of unacceptable toxicity, defined as the occurrence of any Grade 3 or higher, unanticipated, treatment related toxicity.
Measured: 2 years
Secondary outcomes (2)
Efficacy of intravitreal cerliponase alfa to stabilize fundoscopic features.
Efficacy will be determined by measuring the Weill Cornell LINCL Ophthalmic Severity Score prior to each injection.
Measured: 2 years
Efficacy of intravitreal cerliponase alfa to stabilize retinal architecture.
Efficacy will be determined by measuring central retinal thickness via OCT imaging prior to each injection.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2021
- Study start1 Nov 2021
- Primary completion4 Mar 2026
- Study completion6 Mar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Neuronal Ceroid Lipofuscinosis Type 2Studies 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
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- David L Rogers, MD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, David L Rogers, MD, Nationwide Children's Hospital
- Investigators
- David Rogers, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05152914
- Sponsor's protocol ID
- STUDY00001444
- Status last verified
- Apr 2026
- First submitted
- 29 Nov 2021
- Last updated
- 30 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Publications
Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
PubMed 23602993Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 1997 Sep 19;277(5333):1802-5. doi: 10.1126/science.277.5333.1802.
PubMed 9295267Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
PubMed 29688815Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
PubMed 31283065
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
- ClinicalTrials.gov ID
- NCT05152914
- Acronym / sponsor ID
- STUDY00001444
- Conditions
- Neuronal Ceroid Lipofuscinosis Type 2
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- David L Rogers, MDUniversity, hospital or other
- Study start
- 1 Nov 2021 (actual)
- Primary completion
- 4 Mar 2026 (actual)
- Study completion
- 6 Mar 2027 (estimated)
- First posted
- 10 Dec 2021 (actual)
- Results
- Not posted in the source record
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 I/II randomized, masked, clinical trial to determine the safety and efficacy of intravitreal administration of cerliponase alfa.
Detailed description
This is a Phase I/II study for 5 subjects receiving an intravitreal injection of cerliponase alfa under sedation into the proclaimed study eye(s) in a 4-week interval over 24 months. This study will be monitored by a Data Safety Monitoring Committee (DSMB). Each subject will participate in the ongoing study for an active period of 2 years. Subjects will then transfer to a bi-annual monitoring program where data will be collected from bi-annual standard of care visits for an additional 3 years.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intervention | Experimental | Drug: Cerliponase Alfa |
Who may qualify
- Ages
- 24 to 72 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (9 listed)
- Genotypic confirmation of classical CLN2 Batten's disease from a CLIA certified lab.
- Enzyme level deficiency of tripeptidyl-peptidase
- Minimum age requirement: 24 months of age at enrollment
- Maximum age requirement: 72 months of age at enrollment
- Currently receiving intraventricular cerliponase alfa
Key exclusion criteria (7 listed)
- Any opacities in the clear ocular media including vitreous debris.
- History of ocular trauma or prior ocular surgery.
- Episode of generalized motor status epilepticus within four weeks before the First Dose visit
- Severe infection (e.g., upper respiratory tract infection, pneumonia, pyelonephritis, or meningitis) within four weeks before the First Dose visit (enrollment may be postponed)
- Those with a history of bleeding disorders.
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 |
|---|---|---|
| Cerliponase AlfaAlso: BrineuraBrineura is a hydrolytic lysosomal N-terminal tripeptidyl peptidase indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency. | Drug | Intervention |
Primary outcome
Monitoring for the development of unacceptable toxicity.
Time frame: 2 years
Based on the development of unacceptable toxicity, defined as the occurrence of any Grade 3 or higher, unanticipated, treatment related toxicity.
2 secondary outcomes
Efficacy of intravitreal cerliponase alfa to stabilize fundoscopic features.
Time frame: 2 years
Efficacy of intravitreal cerliponase alfa to stabilize retinal architecture.
Time frame: 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2026.
- Background: PubMed 23602993Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
- Background: PubMed 9295267Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 1997 Sep 19;277(5333):1802-5. doi: 10.1126/science.277.5333.1802.
- Background: PubMed 29688815Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D, Dyke JP, Cahan H, Slasor P, Jacoby D, Kohlschutter A; CLN2 Study Group. Study of Intraventricular Cerliponase Alfa for CLN2 Disease. N Engl J Med. 2018 May 17;378(20):1898-1907. doi: 10.1056/NEJMoa1712649. Epub 2018 Apr 24.
- Background: PubMed 31283065Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Hum Mutat. 2019 Nov;40(11):1924-1938. doi: 10.1002/humu.23860. Epub 2019 Jul 26.
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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.
David Rogers, 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 Cerliponase Alfa in people with Neuronal Ceroid Lipofuscinosis Type 2, run by David L Rogers, MD 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 9 inclusion and 7 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: under way, not looking for participants, as of the sponsor's last update on 30 Apr 2026. 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?
This study is still under way. Results are not available in the source record yet.
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?
Monitoring for the development of unacceptable toxicity. (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05152914, which also lists 4 linked publications.
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 30 Apr 2026.