Neuronal ceroid lipofuscinosis type 2 (CLN2) 228349 E75.4
Conditions
Interventions
Group 1: Newborn screening pilot projekt for CLN2 disease (Neuronal ceroid lipofuscinosis type 2). All children receiving newborn screening at the screening laboratory Hamburg or cooperationg newborn
Sponsors
Universitätsklinikum Hamburg-Eppendorf
Eligibility
Sex/Gender
All
Age
1 Days to 3 Months
Inclusion criteria
Inclusion criteria: - Newborns receiving regular newborn screening at the screening laboratory Hamburg or one of the collaborating screening laboratories in the pilot project (current status: Berlin, Leipzig, Hannover) - Consent form for the study "Newborn screening pilot project for CLN2-disease" signed by at least one parent / legal guardian
Exclusion criteria
Exclusion criteria: • Lack of written informed consent to the study • Material insufficient for analyses in the pilot study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Positive-predictive value of the proposed newborn screening algorithm | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints regarding diagnostic quality: true-positive, false-positive, and false-negative results in the screened population, allowing evaluation of the sensitivity, specificity, and negative-predictive value of the screening approach Secondary endpoints regarding process quality: required number of second-tier tests, process times of newborn screening, successful presymptomatic detection, and time to diagnosis and treatment Secondary enpoint regarding patient outcomes: Evaluation of short- and long-term outcome of identified patients (to be performed outside this study in context of the DEM-CHILD-NCL study on treatment outcome in patients with CLN2 disease). | — |
Countries
Germany
Contacts
Public ContactGwendolyn Gramer
Universitätsklinikum Hamburg-Eppendorf
Outcome results
None listed