Neuropediatrics 2015; 46 - FV02-02
DOI: 10.1055/s-0035-1550650

The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses

A. Schulz 1, A. Simonati 2, M. Laine 3, D. Kilian 1, R. William 4, A. Kohlschütter 1, M. Nickel 1
  • 1Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
  • 2University of Verona School of Medicine, Verona, Italy
  • 3Helsinki University Central Hospital, Helsinki, Finland
  • 4St Thomas' Hospital, London, United Kingdom

Aims: The aim of the DEM-CHILD neuronal ceroid lipofuscinoses (NCL) patient database are as follows: (1) to collect, as thoroughly as possible, patients with different NCL forms in participating countries to measure the prevalence of each type of NCL, (2) to establish an NCL patient registry of long-lasting function to enable retrospective and prospective patient data collection and to precisely describe the clinical course and its variability in the different forms of NCL, (3) to correlate the genotype of patients with their phenotype by linking clinical and genetic mutation data, and (4) to establish a tool for evaluation of experimental therapy studies, as well as palliative therapies.

Methods: Two categories of patient data have been included: Static data, which are derived from the medical history of a patient and dynamic data, which are related to the patient's age. Data collection was performed both retrospectively (static data) and prospectively (dynamic data) during regular visits in NCL specialty centers throughout Europe.

Results: In the current DEM-CHILD project, NCL expert clinicians from Finland, UK, Italy, and Germany have collaborated to establish an online NCL patient database. To date, extensive natural history data from more than 200 patients with different NCL forms have been collected. Extensive analysis of genotype–phenotype variability has been performed based on longitudinal clinical scoring data, MRI-based brain volumetry and other clinical information. Prevalence figures for the genetic types CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, and CLN10 have been obtained from the participating countries. The database consortium has now expanded beyond the DEM-CHILD partners with currently 12 countries participating, which allows the database to be the world's largest collection of NCL patient data to date.

Conclusion: The large collection in the DEM-CHILD database of comprehensive sets of data on the natural history of different NCL forms is an indispensable tool for the evaluation of therapies. Its data are already being used for this purpose in the current clinical trials.

Keywords: Neuronal ceroid lipofuscinosis, lysosomal storage diseases, neurodegeneration.