Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin (Dysferlin)
|Study Design:||Endpoint Classification: Pharmacokinetics/Dynamics Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin|
- Dysferlin protein expression levels change from baseline over 5 days assessed by repeated biopsies and blood draws in skeletal muscle and in blood monocytes following administration of a single dose of Bortezomib. [ Time Frame: repeated needle muscle biopsies over a five day period ] [ Designated as safety issue: No ]Repeated needle muscle biopsies and blood draws will be performed after administration of a single dose of Bortezomib (Velcade) to assess dysferlin protein expression in skeletal muscle and in blood monocytes over a five day period.
|Study Start Date:||December 2012|
|Estimated Study Completion Date:||December 2016|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
Experimental: Bortezomib (Velcade®)
This study tests whether salvage of mis-sense mutated dysferlin through proteasomal inhibition seen in cultured muscle cells can be translated into patients harboring dysferlin mis-sense mutations. The proteasomal inhibitor Bortezomib (Velcade®) is already approved as a medication for the treatment of multiple myeloma in Switzerland and in other countries.
Following an administration of a single dose of Bortezomib repeated needle muscle biopsies and blood draws will be performed to assess dysferlin levels in skeletal muscle and blood monocytes over a five day period.
Other Name: Velcade®
Please refer to this study by its ClinicalTrials.gov identifier: NCT01863004
|Contact: Michael Sinnreich, Prof. Dr. MD||0041-61-55 ext firstname.lastname@example.org|
|Neuromuskuläres Zentrum, Universitätsspital Basel||Recruiting|
|Basel, Switzerland, 4031|
|Contact: Michael Sinnreich, Prof. Dr. MD 0041-61-265 41 30 email@example.com|
|Principal Investigator: Michael Sinnreich, Prof. Dr.|
|Sub-Investigator: Bilal A. Azakir, PhD|
|Principal Investigator:||Michael Sinnreich, Prof. Dr. MD||Sponsor-Investigator, Neuromuscular Center, Neurology Clinic, University Hospital Basel, Switzerland|