Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Children's Health of Orange County

Status: Active, not recruiting

Conditions: Spinocerebellar Ataxia, Autosomal Recessive 7; Neuronal Ceroid Lipofuscinosis CLN2; Neuronal Ceroid-Lipofuscinoses

Study type: Observational

Funder types: Other

Identifiers

NCT04098211

190219

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5 patients

Sex: All

Ages: 4+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 criteria

• 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