By InvitationNot Applicable

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

United States30 participantsStarted 2018-12-01

Plain-language summary

The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.

Who can participate

Sex

ALL

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: * Patients that have a TPP1 enzyme deficiency * Patients have confirmed molecular diagnosis of pathogenic variants in the TPP1 gene * Patients that are enrolled in post-marketing studies will be allowed to enroll into the current study Exclusion Criteria: * Patients without a diagnosis of CLN2 and deficiency of TPP1 * Patients that are currently enrolled as part of a larger multi-center clinical trial

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Changes in Visual Reception Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Fine Motor Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Receptive Language Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Expressive Language Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Motor and Language Changes on the CLN2 disease rating scale

Timeframe: up to 4 years

Trial details

NCT IDNCT03862274

SponsorJessica Scherr

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-12

View on ClinicalTrials.gov More Batten Disease trials

Plain-language summary

Who can participate

Sex

ALL

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

Changes in Visual Reception Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Fine Motor Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Receptive Language Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Changes in Expressive Language Skills on the Mullen Scales of Early Learning

Timeframe: up to 4 years

Motor and Language Changes on the CLN2 disease rating scale

Timeframe: up to 4 years