Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Running, not enrolling

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

In brief

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.

Key facts

Study ID

NCT04098211

Run by

Children's Hospital of Orange County

People needed

5

Starts

2019-11-01

Expected to finish

2026-12-01

Last updated by the study team

2026-04-08

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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)

You may not qualify if…

• 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

Where it is running

• Children's Hospital of Orange County — Orange, California, United States

Full record on ClinicalTrials.gov

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