Oculopharyngeal Muscular Dystrophy
Conditions
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.
Interventions
None listed
Sponsors
Hillel Yaffe Medical Center
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Israel
Contacts
Primary ContactItzhak Braverman, Doctor (MD)
Outcome results
None listed