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Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin

NCT01863004 · Status: TERMINATED · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 3

Last updated 2017-09-21

No results posted yet for this study

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.

Conditions

  • Dysferlinopathy

Interventions

DRUG

Bortezomib

Sponsors & Collaborators

  • University Hospital, Basel, Switzerland

    lead OTHER

Principal Investigators

  • Michael Sinnreich, Prof. Dr. MD · Sponsor-Investigator, Neuromuscular Center, Neurology Clinic, University Hospital Basel, Switzerland

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-12-31
Primary Completion
2017-09-15
Completion
2017-09-15

Countries

  • Switzerland

Study Locations

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Entities

Drugs

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01863004 on ClinicalTrials.gov