Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2NCT04476862
Cerliponase Alfa Observational Study in the US
An observational study of Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, run by BioMarin Pharmaceutical at 16 sites in United States.
Trial summary
This is a multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with cerliponase alfa. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
- What is being tested?
- Cerliponase Alfa and Administration Kit
- Type of treatment
- Medical device
- How many people
- 35 participants
- Where
- 16 sitesUnited States
- Study dates
- 19 Aug 2020to 31 Aug 2030
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: CLN2 patients who are currently taking or intend to take cerliponase alfa within 60 days of signing the informed consent form.
Who may be able to join
- Diagnosed with CLN2 disease.
- Currently receiving or plan to begin treatment with cerliponase alfa.
- Written informed consent/assent obtained.
Who cannot join
- 1. Currently receiving treatment in another investigational device or drug study.
Trial locations and contacts
16 sites in 1 country.
16 sites in 1 country
United States16 sites
Children's Healthcare of Atlanta
Atlanta, Georgia, 30329
Children's Hospital of Colorado
Aurora, Colorado, 80045
Boston Children's Hospital,
Boston, Massachusetts, 02115
Rush University Medical Center
Chicago, Illinois, 60612
Nationwide Children's Hospital
Columbus, Ohio, 43130
Texas Children's Hospital
Houston, Texas, 77030
Arkansas Children's Hospital
Little Rock, Arkansas, 72205
Children's Hospital Minnesota
Minneapolis, Minnesota, 55404
NYU Langone Medical Center
New York, New York, 10017
Mt. Sinai School of Medicine
New York, New York, 10029
University of Oklahoma Health Sciences Center
Oklahoma City, Oklahoma, 73104
Children's Hospital of Orange County
Orange, California, 92868
Advent Health
Orlando, Florida, 32803
University of Rochester Medical Center
Rochester, New York, 14642
Seattle Children's Hospital
Seattle, Washington, 98145-5005
Children's National Hospital
Washington D.C., District of Columbia, 20010
About this study
Official title: Cerliponase Alfa Observational Study
This is a multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with cerliponase alfa. Patients receiving or expected to receive cerliponase alfa within 60 days of signing the informed consent form (ICF) may be eligible to enroll in the study, assuming all regulatory requirements for sites that have agreed to participate and protocol inclusion criteria are met. Data may be collected for all or some of the assessments as outlined in the protocol, dependent upon the clinic's and/or individual patient's standard of care.
- Being tested
- Cerliponase Alfa, Administration Kit
- Keywords
- Batten's Disease, CLN2, TPP1 enzyme
- 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
Commercially available product provided to patient by participating clinic site.
Administration KitDevice
Commercially available administration kit provided to the patient by participating clinic site.
| Study group | Role | What they receive |
|---|---|---|
| Cerliponase alfa patients | Patients who are currently on or plan to start taking cerliponase alfa within 60 days of signing the study informed consent form. Receives: Drug: Cerliponase Alfa; Device: Administration Kit |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety surveillance of cerliponase alfa
To evaluate the long-term safety of cerliponase alfa in patients with neuronal ceroid lipofuscinosis Type 2 (CLN2 disease).
Measured: 10 years
Secondary outcomes (2)
Hypersensitivity
To further assess the occurrence of serious hypersensitivity reactions (including anaphylaxis), serious cardiovascular adverse events, and serious device-related complications.
Measured: 10 years
Severe SAE impact on patient's motor and language functions
To evaluate the effects of Grade III or higher serious adverse events (SAEs) on patient performance on the CLN2 clinical rating scale (motor and language domains).
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2020
- Study start19 Aug 2020
- Primary completion31 Aug 2030 (estimated)
- Study completion31 Aug 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2Studies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 35 participants (estimated)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04476862
- Sponsor's protocol ID
- 190-501
- Status last verified
- Jun 2026
- First submitted
- 15 Jul 2020
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cerliponase Alfa Observational Study
- ClinicalTrials.gov ID
- NCT04476862
- Acronym / sponsor ID
- 190-501
- Keywords
- Batten's Disease, CLN2, TPP1 enzyme
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 35 participants (estimated)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 19 Aug 2020 (actual)
- Primary completion
- 31 Aug 2030 (estimated)
- Study completion
- 31 Aug 2030 (estimated)
- First posted
- 20 Jul 2020 (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 multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with cerliponase alfa. Patients receiving or expected to receive cerliponase alfa within 60 days of signing the informed consent form (ICF) may be eligible to enroll in the study, assuming all regulatory requirements for sites that have agreed to participate and protocol inclusion criteria are met. Data may be collected for all or some of the assessments as outlined in the protocol, dependent upon the clinic's and/or individual patient's standard of care.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cerliponase alfa patients | – | Drug: Cerliponase Alfa, Device: Administration KitPatients who are currently on or plan to start taking cerliponase alfa within 60 days of signing the study informed consent form. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- CLN2 patients who are currently taking or intend to take cerliponase alfa within 60 days of signing the informed consent form.
Key inclusion criteria (3 listed)
- Diagnosed with CLN2 disease.
- Currently receiving or plan to begin treatment with cerliponase alfa.
- Written informed consent/assent obtained.
Key exclusion criteria (1 listed)
- 1. Currently receiving treatment in another investigational device or drug study.
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: BrineuraCommercially available product provided to patient by participating clinic site. | Drug | Cerliponase alfa patients |
| Administration KitCommercially available administration kit provided to the patient by participating clinic site. | Device | Cerliponase alfa patients |
Primary outcome
Safety surveillance of cerliponase alfa
Time frame: 10 years
To evaluate the long-term safety of cerliponase alfa in patients with neuronal ceroid lipofuscinosis Type 2 (CLN2 disease).
2 secondary outcomes
Hypersensitivity
Time frame: 10 years
Severe SAE impact on patient's motor and language functions
Time frame: 10 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 Jun 2026.
- 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.
Medical Director, MD study director
BioMarin Pharmaceutical
16 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, run by BioMarin Pharmaceutical at 16 sites 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 3 inclusion and 1 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 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites 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.
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?
Safety surveillance of cerliponase alfa (time frame: 10 years). 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 30 Jun 2026.