Active — Not RecruitingNot Applicable

Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients

United States5 participantsStarted 2019-11-01

Plain-language 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.

Who can participate

Age range4 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

CLN2 Disease Severity Scoring

Timeframe: At baseline and every 3 months afterwards, up to 3 years

Electroretinogram (ERG)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Optical Coherence Tomography (OCT)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Gait Assessment

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Brain Magnetic Resonance Imaging (MRI)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Trial details

NCT IDNCT04098211

SponsorChildren's Hospital of Orange County

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-12

View on ClinicalTrials.gov More Neuronal Ceroid-Lipofuscinoses trials

Who can participate

Age range4 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

CLN2 Disease Severity Scoring

Timeframe: At baseline and every 3 months afterwards, up to 3 years

Electroretinogram (ERG)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Optical Coherence Tomography (OCT)

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Gait Assessment

Timeframe: At baseline and every 6 months afterwards, up to 3 years

Brain Magnetic Resonance Imaging (MRI)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years

Electroencephalography (EEG)

Timeframe: At baseline and every 12 months afterwards, up to 3 years