Oculopharyngeal Muscular Dystrophy (OPMD)Isr-OPMDNCT07146256

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

An observational study of Oculopharyngeal Muscular Dystrophy (OPMD), run by Sheba Medical Center at 1 site in Israel.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Trial 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. Read more about this study

Who is it for?: Ages 18 years and older
Conditions the study is for: Oculopharyngeal Muscular Dystrophy (OPMD)
What is being tested?: Non-interventional observational study
How many people: 300 participants
Where: 1 siteIsrael
Study dates: 1 Feb 2022to Jan 2030
How long will I take part?: 5 Years
Phase: Observational

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
No healthy volunteers
Adult, Older adult

Study population: Genetically Confirmed Oculopharyngeal Muscular Dystrophy

Who may be able to join

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

Who cannot join

Age <18 years and Pregnancy

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Israel1 site, 1 recruiting

Sheba Medical Center
Ramat Gan
Naama Study coordinator, +972552929006, OPMD@sheba.health.gov.il
Amir Dori, MD, PhD
Recruiting

Other trials in Israel

About this study

Read the 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

Conditions: Oculopharyngeal Muscular Dystrophy (OPMD)
Being tested: Non-interventional observational study
Keywords: Oculopharyngeal muscular dystrophy (OPMD), Natural history, Dysphagia, Eyelid ptosis, Muscle weakness, Oral health
Medical subject headings: Muscular Dystrophy, Oculopharyngeal, Deglutition Disorders, Blepharoptosis, Muscle Weakness

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Non-interventional observational studyOther
No intervention will be studied

Study groups in NCT07146256
Study group	Role	What they receive
Subjects with genetically diagnosed OPMD		Not described Receives: Other: Non-interventional observational study

What is being measured

The primary outcome is the main question the study is designed to answer.

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

Secondary outcomes (6)

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

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1 Feb 2022Jan 2030

First posted28 Aug 2025
Study start1 Feb 2022
Primary completionJan 2030 (estimated)
Study completionJan 2030 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Oculopharyngeal Muscular Dystrophy (OPMD)Studies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Prospective
Enrolment: 300 participants (estimated)
Target duration: 5 Years

IDs, dates and publications

ClinicalTrials.gov ID: NCT07146256
Sponsor's protocol ID: SHEBA-21-8801-AD-CTIL
Acronym: Isr-OPMD
Status last verified: Aug 2025
First submitted: 5 Aug 2025
Last updated: 28 Aug 2025
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

Interested in taking part?

Each site lists its own contact. Pick the site nearest to you.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See sites and contacts

RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders

All Oculopharyngeal Muscular Dystrophy (OPMD) trials