Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database

October 22, 2021 updated by: Angela Schulz, Universitätsklinikum Hamburg-Eppendorf

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 is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.

  1. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.
  2. A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

NCLs (Neuronal Ceroid Lipofuscinoses) are a group of rare, inherited, neurodegenerative disorders, also known as Batten disease. Until now, 13 different genes causing different subtypes of disease are known. The genetic mutations cause a symptom complex of progressive loss of acquired skills in the domains of motor function, cognition and visual function, leading to ataxia, movement disorder, dementia, blindness and seizures. In the area of genetic testing, variable clinical phenotypes become more and more prevalent. The disease-mechanisms as well as the exact clinical course of the diseases are currently still not fully understood and documented. Although descriptions of the clinical spectrums exist, the natural history needs to be defined as accurately as possible. These data are urgently needed as clinical control data helping to test the therapeutic efficacy of emerging experimental therapies.

Since samples of genetically defined patients are rare and therefore limited for research, there is an urgent need for researchers to localize and access samples internationally. With the establishment of a local NCL-biorepository and virtual sample localization internationally, scientists worldwide may have a faster way to access needed samples for advancing research.

Any NCL patient with a confirmed molecular diagnosis can join the retrospective and prospective natural history data collection. It is also possible for families with already deceased patients to participate in the retrospective analysis part of the data collection if the genetic mutation is known.

Study Type

Observational

Enrollment (Anticipated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Miriam Nickel, MD
  • Phone Number: +4940741020440
  • Email: m.nickel@uke.de

Study Contact Backup

  • Name: Angela Schulz, MD, PhD
  • Phone Number: +4940741020440
  • Email: anschulz@uke.de

Study Locations

  • Germany
      • Hamburg, Germany, 20246
        • Recruiting
        • University Medical Center Hamburg-Eppendorf
        • Contact:
        • Contact:
          • Angela Schulz, MD, PhD
          • Phone Number: +4940741020440
          • Email: anschulz@uke.de
        • Principal Investigator:
          • Angela Schulz, MD, PhD
        • Principal Investigator:
          • Miriam Nickel, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Children, Adolescents, Adults

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
CLN1 Disease, Haltia-Santavuori Disease
Patients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1.
Other: Natural History
Natural History and Clinical Follow Up.
CLN2 Disease, Jansky-Bielschowsky Disease
Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1.
Other: Natural History
Natural History and Clinical Follow Up.
CLN2 Disease - ERT (Brineura) treated
Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1, previously and/or currently receiving enzyme-replacement therapy (ERT) with Cerliponase alpha (Brineura).
Other: Natural History
Natural History and Clinical Follow Up.
CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease
Patients with genetic mutations in the CLN3 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN4 disease, Parry disease
Patients with genetic mutations in the CLN4/DNAJC5 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN5 Disease
Patients with genetic mutations in the CLN5 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN6 Disease, Kufs Disease Type A
Patients with genetic mutations in the CLN6 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN7 Disease
Patients with genetic mutations in the CLN7/MFSD8 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN8 Disease
Patients with genetic mutations in the CLN8 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN10 Disease
Patients with genetic mutations in the CLN10/CTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D.
Other: Natural History
Natural History and Clinical Follow Up.
CLN11 Disease
Patients with genetic mutations in the CLN11/GRN gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN12 Disease
Patients with genetic mutations in the CLN12/ATP13A2 gene.
Other: Natural History
Natural History and Clinical Follow Up.
CLN13 Disease, Kufs Disease Type B
Patients with genetic mutations in the CLN13/CTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F.
Other: Natural History
Natural History and Clinical Follow Up.
CLN14 Disease
Patients with genetic mutations in the CLN14/KCTD7 gene.
Other: Natural History
Natural History and Clinical Follow Up.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of key symptoms of disease, natural history of disease progression and development of quantitative tools for rating disease progression that can be used as therapeutic outcome measures for emerging experimental therapies.
Time Frame: Up to 30 years
Evaluation of Medical history from patient interviews and medical chart review. Evaluating data from clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Up to 30 years
Establish well characterized Natural History Cohorts from genetically defined NCL patients to provide these as Natural History Control Cohorts for new experimental therapy trials.
Time Frame: Up to 30 years
Analysis of retrospective and prospective data from patient interviews and medical chart review as well as clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Up to 30 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Establish a biorepository of samples from genetically defined NCL patients.
Time Frame: Up to 30 years
- Collection of biospecimens that have been collected within treatment as part of standard of care.
Up to 30 years
Establish a virtual biorepository from genetically defined NCL patients within the DEM-CHILD Database.
Time Frame: Up to 30 years
Datacollection of available biospecimens from genetically defined NCL patients and the collecting center contacts within the DEM-CHILD DB.
Up to 30 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Universitätsklinikum Hamburg-Eppendorf

Investigators

  • Principal Investigator: Angela Schulz, MD, PhD, Head of NCL-Specialty Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 8, 2020

Primary Completion (Anticipated)

April 8, 2050

Study Completion (Anticipated)

April 8, 2050

Study Registration Dates

First Submitted

September 10, 2020

First Submitted That Met QC Criteria

October 27, 2020

First Posted (Actual)

November 3, 2020

Study Record Updates

Last Update Posted (Actual)

October 29, 2021

Last Update Submitted That Met QC Criteria

October 22, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DEM-CHILD2020

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

IPD Plan Description

The goal of the independent international DEM-CHILD DB is to collect high quality natural history data of NCL patients. The independent nature of the database allows to make data available for international research on treatment evaluation and development.

IPD Sharing Access Criteria

Upon written formal request. Project description of anticipated data usage needed. Specifications for exact data access (type of NCL, retrospective or prospective data, data items) and data transfer (one-time transfer, longitudinal access) must be declared. Data transfer agreements detailing the above will need to be in place with the respective data-entering center who has full data ownership.

IPD Sharing Supporting Information Type

  • Study Protocol
  • Informed Consent Form (ICF)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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