Batten disease
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria. 1. Genetically confirmed diagnosis of CLN3. 2. Parents or next of kin must give informed consent for participation in this research study. 3. An independent doctor should confirm in advance that participants are in good physical health to donate blood.
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: Patients which physical and/or mental status is such, that a 15-20 ml blood donation cannot be recommended as judged by an attending physician
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study outcome parameter will be to determine whether significant differences in -omics signatures can be detected between patient samples and controls. If not, the study will be terminated | — |
Secondary
| Measure | Time frame |
|---|---|
| The knowledge gained from this pilot study on the biomarker will, if the outcomes are as expected, be used in the future to investigate whether potential therapies are actually effective." | — |
Countries
Netherlands
Outcome results
None listed