Natural History of Oculo-Pharyngeal Muscular Dystrophy (O... | NCT07146256

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

NCT07146256

Sponsor

Sheba Medical Center

Status

Recruiting

Last Update Posted

Aug 28, 2025Actual

Enrollment

300Estimated

Phase

Not provided

Conditions

Oculopharyngeal Muscular Dystrophy (OPMD)

Interventions

Non-interventional observational study

Countries

Israel

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 1, 2022Actual

Primary Completion Date

Jan 2030Estimated

Completion Date

Jan 2030Estimated

First Submitted Date

Aug 5, 2025

First Submission Date that Met QC Criteria

Aug 21, 2025

First Posted Date

Aug 28, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 21, 2025

Last Update Posted Date

Aug 28, 2025Actual

Name	Class
The non-profit organization for promotion of health and cure of OPMD	UNKNOWN

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

5 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

300Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Subjects with genetically diagnosed OPMD			Other: Non-interventional observational study

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Non-interventional observational study	Other	No intervention will be studied	Subjects with genetically diagnosed OPMD

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Measure	Description	Time Frame
Maximum Expiratory Pressure	Maximum Expiratory Pressure (MEP)	2 years
Cough Peak Flow	Cough Peak Flow (CPF)	2 years

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Age <18 years and Pregnancy

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Genetically Confirmed Oculopharyngeal Muscular Dystrophy

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Sheba Medical Center	Recruiting	Ramat Gan			Israel

References Module

Citations

Not provided

ID	Term
D039141	Muscular Dystrophy, Oculopharyngeal
D003680	Deglutition Disorders
D001763	Blepharoptosis
D018908	Muscle Weakness

ID	Term
D009136	Muscular Dystrophies
D020966	Muscular Disorders, Atrophic
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases