Observational study on the natural history of Batten disease
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
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 |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Universitätsklinikum Hamburg-Eppendorf Academic / other |
| Locations | 1 site (Hamburg) |
| Trial ID | NCT04613089 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients with a confirmed molecular diagnosis of any form of NCL disease.
Not a fit: Patients without a confirmed molecular diagnosis of NCL disease will not benefit from this study.
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 performed: While there have been studies on NCL diseases, this approach of establishing a comprehensive natural history database and biorepository is relatively novel.
Eligibility criteria
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 this trial is running
Hamburg
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.