Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Neuronal Ceroid-Lipofuscinoses Clinical Trial

Official title: Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency (Neuronal Ceroid Lipofuscinosis Type 2) Patients

Status Active, not recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Neuronal Ceroid Lipofuscinosis CLN2
• Neuronal Ceroid-Lipofuscinoses
• Spinocerebellar Ataxia, Autosomal Recessive 7
• Spinocerebellar Ataxias
• Spinocerebellar Degenerations

• NCT number: NCT04098211
• Study type: Observational
• Source: Children's Hospital of Orange County
• Status: Active, not recruiting
• Start date: November 1, 2019
• Completion date: December 2024