Observational study on the natural history of Batten disease
Official title: Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database
Run by Universitätsklinikum Hamburg-Eppendorf · NCT04613089 · Data updated 2026-11-12
This study looks at how Batten disease affects patients over time by collecting information about their symptoms and health to help understand the disease better and support future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | Universitätsklinikum Hamburg-Eppendorf Academic / other |
| Locations | 1 site (Hamburg) |
| Status | Recruiting |
| Started | April 8, 2020 |
| Main results expected | April 8, 2050 |
| Study ends | April 8, 2050 |
| Registry record updated | October 29, 2021 |
| Trial ID | NCT04613089 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients with a confirmed molecular diagnosis of any form of NCL disease.
✕Probably not a fit
Patients without a confirmed molecular diagnosis of NCL disease will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to assess the natural history of Neuronal Ceroid Lipofuscinosis (NCL) diseases, also known as Batten disease, through the collection of patient data from medical records, questionnaires, and clinical examinations. The focus is on evaluating disease progression in areas such as motor skills, cognition, seizures, vision, and behavior. Additionally, a local biorepository of samples from genetically defined NCL patients will be established, along with a virtual biorepository to facilitate international access to these samples for research purposes. This study is crucial for defining the clinical course of NCL diseases and providing control data for testing new therapies.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Batten disease progression and support the development of effective treatments.
How similar studies have gone: While there have been studies on NCL diseases, this approach of establishing a comprehensive natural history database and biorepository is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: \- Patients with a confirmed molecular diagnosis of a form of NCL Disease Additional inclusion criteria for Group/Cohort: "CLN2 Disease - ERT (Brineura) Treated": * Documented diagnosis of TPP1 deficiency * Previous or current treatment with intracerebroventricular ERT with cerliponase alpha * Patients that are currently participating in post-marketing studies will be allowed to participate. Exclusion Criteria: \- Patients with no confirmed molecular diagnosis of a form of NCL Disease
Where it's running
-
University Medical Center Hamburg-Eppendorf
Hamburg, Germany Recruiting
Study contacts
- Principal investigator: Angela Schulz, MD, PhD — Head of NCL-Specialty Clinic
- Study coordinator: Miriam Nickel, MD
- Email: m.nickel@uke.de
- Phone: +4940741020440
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Investigating Batten disease and its effects
This study is trying to understand how Batten disease affects movement, behavior, and daily life by collecting information from people with the condition over time.
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Registry for patients with neuronal ceroid lipofuscinosis
This study is creating a registry to collect and track information from people with neuronal ceroid lipofuscinosis to help improve future treatments and understand the condition better.
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This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.
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Investigating biomarkers for Juvenile Neuronal Ceroid Lipofuscinosis
This study is trying to find specific markers in blood and other samples from people with Batten disease to help track the disease's progress and support future treatments.
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Registry for inherited retinal degenerative diseases
This study is creating a registry for people with rare inherited eye diseases to help track their health and experiences over time, making it easier to understand these conditions and support research.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.