Pathology Analysis of OPMD Patient Myotomies

Hillel Yaffe Medical Center10 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Oculopharyngeal Muscular Dystrophy

Eligibility

Sex: ALLMin age: 18 YearsMax age: 70 Years

Medical Language ↔ Plain English

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.

Locations (1)

Hillel Yaffe Medical Center

Hadera, Israel

RECRUITING

Outcomes

Primary Outcomes

Number of genes that show changes in RNA profile, measured by sequencing.

RNA profile analysis of OPMD muscle samples will be compared to unaffected muscle samples using sequencing to identify gene numbers.

Time frame: Data will be collected within four years.

Number of genes that show changes in protein profile, measured by SDS page.

Protein profile analysis of OPMD muscle samples will be compared to unaffected muscle samples to identify gene numbers using SDS page.

Time frame: Data will be collected within four years.

Central Contacts

Itzhak Braverman, Doctor (MD)

CONTACT

+972-4-6304549 braverman@hy.health.gov.il

Data from ClinicalTrials.gov

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