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

Sponsor
Universitätsklinikum Hamburg-Eppendorf
Study ID
NCT04613089
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Natural History — OTHER
    Natural History and Clinical Follow Up.

Study Details

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.

Key Dates

Start date
Apr 8, 2020
Status verified
Oct 2021
Primary completion
Apr 8, 2050
Completion
Apr 8, 2050

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: CLN1 Disease, Haltia-Santavuori Disease
    Patients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1.
  • Arm: CLN2 Disease, Jansky-Bielschowsky Disease
    Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1.
  • Arm: 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).
  • Arm: CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease
    Patients with genetic mutations in the CLN3 gene.
  • Arm: CLN4 disease, Parry disease
    Patients with genetic mutations in the CLN4/DNAJC5 gene.
  • Arm: CLN5 Disease
    Patients with genetic mutations in the CLN5 gene.
  • Arm: CLN6 Disease, Kufs Disease Type A
    Patients with genetic mutations in the CLN6 gene.
  • Arm: CLN7 Disease
    Patients with genetic mutations in the CLN7/MFSD8 gene.
  • Arm: CLN8 Disease
    Patients with genetic mutations in the CLN8 gene.
  • Arm: CLN10 Disease
    Patients with genetic mutations in the CLN10/CTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D.
  • Arm: CLN11 Disease
    Patients with genetic mutations in the CLN11/GRN gene.
  • Arm: CLN12 Disease
    Patients with genetic mutations in the CLN12/ATP13A2 gene.
  • Arm: CLN13 Disease, Kufs Disease Type B
    Patients with genetic mutations in the CLN13/CTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F.
  • Arm: CLN14 Disease
    Patients with genetic mutations in the CLN14/KCTD7 gene.

Primary Outcome Measure

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 ]

Central Contacts

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