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

Universitätsklinikum Hamburg-Eppendorf

Status: Enrolling

Conditions: CLN1 Disease; CLN2 Disease; CLN14 Disease; CLN7 Disease; CLN11 Disease; Neuronal Ceroid Lipofuscinosis; CLN8 Disease; CLN13 Disease; Batten Disease; CLN4 Disease; CLN10 Disease; CLN5 Disease; CLN12 Disease; CLN3 Disease; CLN6 Disease

Treatments: Other: Natural History

Study type: Observational

Funder types: Other

Identifiers

NCT04613089

DEM-CHILD2020

Details and patient eligibility

About

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.

Full 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.

Enrollment: 500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

500 participants in 14 patient groups

CLN1 Disease, Haltia-Santavuori Disease

Description:

Patients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1.

Treatment:

Other: Natural History

CLN2 Disease, Jansky-Bielschowsky Disease

Description:

Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1.

Treatment:

Other: Natural History

CLN2 Disease - ERT (Brineura) treated

Description:

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).

Treatment:

Other: Natural History

CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease

Description:

Patients with genetic mutations in the CLN3 gene.

Treatment:

Other: Natural History

CLN4 disease, Parry disease

Description:

Patients with genetic mutations in the CLN4/DNAJC5 gene.

Treatment:

Other: Natural History

CLN5 Disease

Description:

Patients with genetic mutations in the CLN5 gene.

Treatment:

Other: Natural History

CLN6 Disease, Kufs Disease Type A

Description:

Patients with genetic mutations in the CLN6 gene.

Treatment:

Other: Natural History

CLN7 Disease

Description:

Patients with genetic mutations in the CLN7/MFSD8 gene.

Treatment:

Other: Natural History

CLN8 Disease

Description:

Patients with genetic mutations in the CLN8 gene.

Treatment:

Other: Natural History

CLN10 Disease

Description:

Patients with genetic mutations in the CLN10/CTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D.

Treatment:

Other: Natural History

CLN11 Disease

Description:

Patients with genetic mutations in the CLN11/GRN gene.

Treatment:

Other: Natural History

CLN12 Disease

Description:

Patients with genetic mutations in the CLN12/ATP13A2 gene.

Treatment:

Other: Natural History

CLN13 Disease, Kufs Disease Type B

Description:

Patients with genetic mutations in the CLN13/CTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F.

Treatment:

Other: Natural History

CLN14 Disease

Description:

Patients with genetic mutations in the CLN14/KCTD7 gene.

Treatment:

Other: Natural History