Natural History of Oculo-Pharyngeal Muscular Dystrophy (OPMD) - Israel National OPMD Registry

Recruiting

• Conditions: Oculopharyngeal Muscular Dystrophy (OPMD)

• Registration Number: NCT07146256
• Lead Sponsor: Sheba Medical Center

Brief Summary

The goal of this open prospective multi-disciplinary observational study of patients with OPMD at various stages of clinical manifestations is to explore the natural history of the disease in the Israeli population.

Detailed Description

The the following procedures will be performed by a multidisciplinary team:

Neurological and neurocognitive examination; Clinical assessment of of swallowing and severity of dysphagia; Clinical assessment of eyelid ptosis severity; Clinical assessment of respiratory muscles function; Clinical assessment of oral health

Study Timeline

• Study Start: 2022-02-01
• Status Verified: 2025-08
• Study First Submitted: 2025-08-05
• Study First Submitted QC: 2025-08-21
• Last Update Submitted: 2025-08-21
• Study First Posted: 2025-08-28
• Last Update Posted: 2025-08-28
• Primary Completion: 2030-01
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

• Patients with clinical diagnosis of OPMD or patients with signs /symptoms suggestive of OPMD

Exclusion Criteria

• Age <18 years and Pregnancy

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Severity of muscle strength decline over time	1 year	10-meter walk test
Penetration/Aspiration Scale	1 year	Penetration/Aspiration Scale (PAS)
Upper Margin Reflex Distance	1 year	Upper Margin Reflex Distance
Lower Margin Reflex Distance	1 year	Lower Margin Reflex Distance

Secondary Outcome Measures

Name	Time	Method
Maximum Expiratory Pressure	2 years	Maximum Expiratory Pressure (MEP)
Cough Peak Flow	2 years	Cough Peak Flow (CPF)
Oral health	2 years	Decayed, Missing, and Filled Teeth (DMFT) index
Dysphagia severity	1 year	Yale Pharyngeal Residue Severity Rating Scale
Functional Oral Intake Scale	1 year	Functional Oral Intake Scale (FOIS)
Swallowing Disturbance	1 year	Swallowing Disturbance Questionnaire (SDQ)

Trial Locations

Locations (1)

Sheba Medical Center; 🇮🇱 Ramat Gan, Israel