Towards a clinical trial for oculopharyngeal muscular dystrophy (OPMD) - natural history and outcome measures.

Towards a clinical trial for oculopharyngeal muscular dystrophy (OPMD) - natural history and outcome measures. - OPMD Forte

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON42807

Enrollment

Registered

2015-12-08

Start date

2016-02-04

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

oculopharyngeal muscular dystrophy OPMD

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Participants of 18 years and older who have a genetically confirmed diagnosis of OPMD with or without symptoms - Participants of 18 years and older with a clinically diagnosed OPMD, who give permission for genetic testing for OPMD

Exclusion criteria

Exclusion criteria: - Incapacitated persons will not be included in this study. Participants can be excluded for parts of the study: Participants with contra-indications for MRI-scan will not undergo MRI; Participants who are claustrophobic will not undergo MRI, unless the participant approves; Participants who are unable to swallow, hence are dependent of non-oral feeding or have no oral intake at all will not undergo swallowing tests.

Design outcomes

Primary

Measure	Time frame
Any regression on the following functions at t=0 and t=18 months will be collected. - Degree and extent of muscle weakness. Measured with MRC (Medical Research Council) scores, dynamometry, and assessment of the maximum bite force (using the Bite Force Gauge) and the maximum tongue strength (using Iowa Oral Performance Instrument (IOPI)). - Fat fraction and degree of inflammation in muscles of legs and pharyngeal muscles. MRI-scans and muscle ultrasound will be performed. - Swallow, chewing and speech capacity will be assessed and compared. Measurements of swallow capacity contains the maximum swallowing speed and maximum swallowing volume. The chewing capacity will be measured with the chewing test. Different parts of the standardized Dutch Dysartria Assessment (NDO-V) will be used to measure speech capacity. - A structured interview about swallowing and speech function is included. And an interview on medical history and family history on OPMD. - The functional motor abilities will be collected and measured with the Motor Function Measure (MFM) and the 10 steps stairs test. - Scores on several questionnaires will be analyzed. - Blood and saliva samples will be collected for DNA- and RNA analysis.	—

Measure

Time frame

Any regression on the following functions at t=0 and t=18 months will be collected. - Degree and extent of muscle weakness. Measured with MRC (Medical Research Council) scores, dynamometry, and assessment of the maximum bite force (using the Bite Force Gauge) and the maximum tongue strength (using Iowa Oral Performance Instrument (IOPI)). - Fat fraction and degree of inflammation in muscles of legs and pharyngeal muscles. MRI-scans and muscle ultrasound will be performed. - Swallow, chewing and speech capacity will be assessed and compared. Measurements of swallow capacity contains the maximum swallowing speed and maximum swallowing volume. The chewing capacity will be measured with the chewing test. Different parts of the standardized Dutch Dysartria Assessment (NDO-V) will be used to measure speech capacity. - A structured interview about swallowing and speech function is included. And an interview on medical history and family history on OPMD. - The functional motor abilities will be collected and measured with the Motor Function Measure (MFM) and the 10 steps stairs test. - Scores on several questionnaires will be analyzed. - Blood and saliva samples will be collected for DNA- and RNA analysis.

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Countries

Netherlands

Outcome results