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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Cerliponase Alfa | Drug | Commercially available product provided to patient by participating clinic site. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Safety surveillance of cerliponase alfa | To evaluate the long-term safety of cerliponase alfa in patients with neuronal ceroid lipofuscinosis Type 2 (CLN2 disease). | 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Hypersensitivity | To further assess the occurrence of serious hypersensitivity reactions (including anaphylaxis), serious cardiovascular adverse events, and serious device-related complications. | 10 years |
| Severe SAE impact on patient's motor and language functions |
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Inclusion Criteria:
Exclusion Criteria:
1. Currently receiving treatment in another investigational device or drug study.
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CLN2 patients who are currently taking or intend to take cerliponase alfa within 60 days of signing the informed consent form.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director, MD | BioMarin Pharmaceutical | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Arkansas Children's Hospital | Little Rock | Arkansas | 72205 | United States | ||
| Children's Hospital of Orange County |
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| Administration Kit | Device | Commercially available administration kit provided to the patient by participating clinic site. |
|
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). |
| 10 years |
| Orange |
| California |
| 92868 |
| United States |
| Children's Hospital of Colorado | Aurora | Colorado | 80045 | United States |
| Children's National Hospital | Washington D.C. | District of Columbia | 20010 | United States |
| Advent Health | Orlando | Florida | 32803 | United States |
| Children's Healthcare of Atlanta | Atlanta | Georgia | 30329 | United States |
| Rush University Medical Center | Chicago | Illinois | 60612 | United States |
| Boston Children's Hospital, | Boston | Massachusetts | 02115 | United States |
| Children's Hospital Minnesota | Minneapolis | Minnesota | 55404 | United States |
| NYU Langone Medical Center | New York | New York | 10017 | United States |
| Mt. Sinai School of Medicine | New York | New York | 10029 | United States |
| University of Rochester Medical Center | Rochester | New York | 14642 | United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43130 | United States |
| University of Oklahoma Health Sciences Center | Oklahoma City | Oklahoma | 73104 | United States |
| Texas Children's Hospital | Houston | Texas | 77030 | United States |
| Seattle Children's Hospital | Seattle | Washington | 98145-5005 | United States |
| ID | Term |
|---|---|
| D009472 | Neuronal Ceroid-Lipofuscinoses |
| ID | Term |
|---|---|
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| ID | Term |
|---|---|
| C000621431 | cerliponase alfa |
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