No registrations found.
ID
Source
Health condition
TRPV1, cystinosis, CTNS, 57 kb deletion
Sponsors and support
Herestraat 49
3000 Leuven
Belgium
Herestraat 49
3000 Leuven
Belgium
Intervention
Outcome measures
Primary outcome
TRPV1 exression.
Secondary outcome
N/A
Background summary
The first two exons of TRPV1 are deleted in the most common mutation found in cystinosis patients: a large 57 kb deletion. We aim to study TRPV1 expression in cystinosis patients both homozygous and heterozygous for this deletion.
Study objective
The first two exons of TRPV1 are deleted in the most common mutation found in cystinosis patients: A large 57 kb deletion. We aim to study TRPV1 expression in cystinosis patients both homozygous and heterozygous for this deletion.
Study design
N/A
Intervention
Blood withdrawal.
Peripheral blood mononuclear cells (PBMC) will be isolated from whole blood using a Ficoll gradient centrifugation. Next, RNA will be isolated from these PBMC. TRPV1 expression will be measured by qPCR in the PBMC RNA.
Dept of Pediatrics<br>
Herestraat 49
Martine Besouw
Leuven 3000
Belgium
+32 347285
martine.besouw@uzleuven.be
Dept of Pediatrics<br>
Herestraat 49
Martine Besouw
Leuven 3000
Belgium
+32 347285
martine.besouw@uzleuven.be
Inclusion criteria
All cystinosis patients that are in follow-up in the University Hospitals Leuven, Belgium.
Exclusion criteria
Patients refusing their cooperation to the study.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL3018 |
| NTR-old | NTR3166 |
| Other | Clinical Trial Center UZ Leuven, België : S53728 |
| ISRCTN | ISRCTN wordt niet meer aangevraagd. |