Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin (Dysferlin)
|ClinicalTrials.gov Identifier: NCT01863004|
Recruitment Status : Terminated (insufficient enrollment rate)
First Posted : May 27, 2013
Last Update Posted : September 21, 2017
|Condition or disease||Intervention/treatment||Phase|
|Dysferlinopathy||Drug: Bortezomib||Phase 1|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||3 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin|
|Study Start Date :||December 2012|
|Primary Completion Date :||September 15, 2017|
|Study Completion Date :||September 15, 2017|
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®
- 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 ]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.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01863004
|Neuromuskuläres Zentrum, Universitätsspital Basel|
|Basel, Switzerland, 4031|
|Principal Investigator:||Michael Sinnreich, Prof. Dr. MD||Sponsor-Investigator, Neuromuscular Center, Neurology Clinic, University Hospital Basel, Switzerland|