Ignite Creation Date:
2025-12-24 @ 9:15 PM
Ignite Modification Date:
2025-12-25 @ 7:04 PM
Study NCT ID:
NCT01863004
Status:
TERMINATED
Last Update Posted:
2017-09-21
First Post:
2013-04-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin
Sponsor:
University Hospital, Basel, Switzerland
Organization:
Study Overview
Official Title:
Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin
Status:
TERMINATED
Status Verified Date:
2017-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
insufficient enrollment rate
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
Dysferlin
Brief Summary:
Dysferlin is a protein with an important role in the repair of muscle surface membranes. Mutations in dysferlin cause different forms of muscular dystrophies. Dysferlinopathies are inherited in an autosomal recessive manner, and many patients with this disease harbor mis-sense mutations in at least one of their two pathogenic DYSF alleles. These patients have significantly reduced or absent dysferlin levels in skeletal muscle, suggesting that dysferlin encoded by mis-sense alleles is rapidly degraded by the cell's quality-control system. In a series of in-vitro experiments we showed that mis-sense mutated dysferlin can be salvaged from degradation by proteasomal inhibition. This resulted in an increase of functional dysferlin protein and a subsequent repair of plasma membranes of cultured patient-derived muscle cells. In this proof-of-concept study we would like to test wether proteasomal inhibition can salvage mis-sense mutated dysferlin in patients harboring certain dysferlin mis-sense mutations.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 2011DR1148 | REGISTRY | Swissmedic Referenznummer 2011DR1148 | View |