Metabolomics from*lysosomal organelles*isolated*from fresh peripheral blood of CLN3 patients and healthy controls and/or allele carriers.*A proof of principle study.
- Conditions
- Batten disease10027424
- Registration Number
- NL-OMON56485
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 20
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
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
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The main study outcome parameter will be to determine whether significant<br /><br>differences in -omics signatures can be detected between patient samples and<br /><br>controls. If not, the study will be terminated</p><br>
- Secondary Outcome Measures
Name Time Method <p>The knowledge gained from this pilot study on the biomarker will, if the<br /><br>outcomes are as expected, be used in the future to investigate whether<br /><br>potential therapies are actually effective.</p><br>