Pathology Analysis of OPMD Patient Myotomies

• Conditions: Oculopharyngeal Muscular Dystrophy

• Registration Number: NCT03874910
• Lead Sponsor: Hillel Yaffe Medical Center

Brief Summary

The study aims to characterize the effect of OPMD mutation on muscle function. Muscle samples will be received from oculopharyngeal muscular dystrophy (OPMD) patients who undergo cricopharyngeal muscle-cutting surgery, as part of their routine healthcare and treatment.

Detailed Description

Not available

Study Timeline

• Status Verified: 2019-03
• Study First Submitted: 2019-03-04
• Study First Submitted QC: 2019-03-12
• Study First Posted: 2019-03-14
• Study Start: 2019-03-19
• Last Update Submitted: 2019-03-19
• Last Update Posted: 2019-03-21
• Primary Completion: 2023-03
• Study Completion: 2023-03

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• OPMD patients both male and female.
• OPMD patients between the ages 18-70 years.
• OPMD patients who are referred to the cricopharyngeal muscle-cutting surgery as part of their usual treatment.

Exclusion Criteria

• OPMD patients not referred to the cricopharyngeal muscle-cutting surgery as part of their usual treatment.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of genes that show changes in RNA profile, measured by sequencing.	Data will be collected within four years.	RNA profile analysis of OPMD muscle samples will be compared to unaffected muscle samples using sequencing to identify gene numbers.
Number of genes that show changes in protein profile, measured by SDS page.	Data will be collected within four years.	Protein profile analysis of OPMD muscle samples will be compared to unaffected muscle samples to identify gene numbers using SDS page.

Trial Locations

Locations (1)

Hillel Yaffe Medical Center; 🇮🇱 Hadera, Israel