Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

5 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-11-01

Study Completion Date

2024-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Cerliponase Alfa Observational Study in the US

NCT04476862

Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2

ACTIVE_NOT_RECRUITING

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1

NCT02124083

Neimann-Pick Disease

COMPLETED PHASE1/PHASE2

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

NCT00344331

Niemann-Pick Disease, Type C

RECRUITING

Longitudinal Studies of the Glycoproteinoses

NCT01891422

Aspartylglucosaminuria Fucosidosis Galactosialidosis +6 more

COMPLETED

Effects of Enzyme Replacement in Gaucher's Disease

NCT00001289

Gaucher's Disease

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Minimum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No