Trials / Active Not Recruiting
Active Not RecruitingNCT04098211
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients
- Status
- Active Not Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 5 (actual)
- Sponsor
- Children's Hospital of Orange County · Academic / Other
- Sex
- All
- Age
- 4 Years
- Healthy volunteers
- Not accepted
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 deficiency) have and how they change over time.
Detailed description
This study aims characterize the natural history of atypical TPP1 deficiency patients via longitudinal multidisciplinary assessments. Multifaceted clinical, laboratory, imaging, and diagnostic assessments will be performed at regular intervals upon enrolled aTPP1 deficiency patients, collated, and analyzed over a three-year longitudinal period.
Conditions
- Neuronal Ceroid-Lipofuscinoses
- Neuronal Ceroid Lipofuscinosis CLN2
- Spinocerebellar Ataxia, Autosomal Recessive 7
Timeline
- Start date
- 2019-11-01
- Primary completion
- 2026-12-01
- Completion
- 2026-12-01
- First posted
- 2019-09-23
- Last updated
- 2026-04-08
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT04098211. Inclusion in this directory is not an endorsement.