Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin (Dysferlin)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|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|
|Actual Primary Completion Date :||September 15, 2017|
|Actual 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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|