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Cerliponase Alfa Observational Study in the US

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04476862
Recruitment Status : Recruiting
First Posted : July 20, 2020
Last Update Posted : February 11, 2021
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Brief 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. 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.

Condition or disease Intervention/treatment
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 Drug: Cerliponase Alfa Device: Administration Kit

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Study Type : Observational
Estimated Enrollment : 35 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Cerliponase Alfa Observational Study
Actual Study Start Date : August 19, 2020
Estimated Primary Completion Date : August 24, 2030
Estimated Study Completion Date : August 24, 2030

Group/Cohort Intervention/treatment
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.
Drug: Cerliponase Alfa
Commercially available product provided to patient by participating clinic site.
Other Name: Brineura

Device: Administration Kit
Commercially available administration kit provided to the patient by participating clinic site.

Primary Outcome Measures :
  1. 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).

Secondary Outcome Measures :
  1. Hypersensitivity [ Time Frame: 10 years ]
    To further assess the occurrence of serious hypersensitivity reactions (including anaphylaxis), serious cardiovascular adverse events, and serious device-related complications.

  2. Severe SAE impact on patient's motor and language functions [ Time Frame: 10 years ]
    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).

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
CLN2 patients who are currently taking or intend to take cerliponase alfa within 60 days of signing the informed consent form.

Inclusion Criteria:

  1. Diagnosed with CLN2 disease.
  2. Currently receiving or plan to begin treatment with cerliponase alfa.
  3. Written informed consent/assent obtained.

Exclusion Criteria:

1. Currently receiving treatment in another investigational device or drug study.

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 identifier (NCT number): NCT04476862

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Contact: Trial Specialist +1.651.523.0310

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United States, Arkansas
Arkansas Children's Hospital Recruiting
Little Rock, Arkansas, United States, 72205
Principal Investigator: Kapil Arya, MD         
United States, California
Children's Hospital of Orange County Recruiting
Orange, California, United States, 92868
Principal Investigator: Raymond Wang, MD         
United States, Colorado
Children's Hospital of Colorado Recruiting
Aurora, Colorado, United States, 80045
Principal Investigator: Scott Demarest, MD         
United States, Minnesota
Children's Hospital Minnesota Recruiting
Minneapolis, Minnesota, United States, 55404
Principal Investigator: Vikas Bhambhani, MD         
United States, New York
Mt. Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Principal Investigator: Jayesh Ganesh, MD         
University of Rochester Medical Center Recruiting
Rochester, New York, United States, 14642
Principal Investigator: Jennifer Vermilion, MD         
United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43130
Principal Investigator: Emily De Los Reyes, MD         
Sponsors and Collaborators
BioMarin Pharmaceutical
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Study Director: Medical Monitor, MD BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical Identifier: NCT04476862    
Other Study ID Numbers: 190-501
First Posted: July 20, 2020    Key Record Dates
Last Update Posted: February 11, 2021
Last Verified: February 2021
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: Yes
Keywords provided by BioMarin Pharmaceutical:
Batten's Disease
TPP1 enzyme
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