Status:
ACTIVE_NOT_RECRUITING
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Lead Sponsor:
Children's Hospital of Orange County
Conditions:
Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid Lipofuscinosis CLN2
Eligibility:
All Genders
4+ years
Brief Summary
The purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase def...
Detailed Description
This study aims characterize the natural history of atypical TPP1 deficiency patients via longitudinal multidisciplinary assessments. Multifaceted clinical, laboratory, imaging, and diagnostic assess...
Eligibility Criteria
Inclusion
- Any patient with documented TPP1 enzymatic deficiency or TPP1 sequence variants
- Onset of first symptom after 4 years of age
- Parental provision of informed consent; child provision of assent (if necessary)
Exclusion
- Any patient with "Classical" TPP1 deficiency (onset of first symptom prior to 4 years of age)
- Investigator assessment that patient is not suitable candidate to participate in the study
Key Trial Info
Start Date :
November 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2024
Estimated Enrollment :
5 Patients enrolled
Trial Details
Trial ID
NCT04098211
Start Date
November 1 2019
End Date
December 1 2024
Last Update
February 20 2024
Active Locations (1)
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1
Children's Hospital of Orange County
Orange, California, United States, 92868