MyopathyNCT02765828
Identification of Tongue Involvement in Late-Onset Pompe Disease
An observational study of Myopathy and Neuropathy, run by Duke University at 1 site in United States.
Trial summary
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- What is being tested?
- Observational study
- How many people
- 73 participants
- Where
- 1 siteUnited States
- Study dates
- 25 May 2016to 15 Jul 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.
Who may be able to join
- age ≥ 12 years
- confirmed diagnosis of LOPD and naïve to enzyme-replacement therapy (ERT)
- acquired/hereditary myopathy (e.g., dermatomyositis, polymyositis, inclusion body myositis, limb-girdle muscular dystrophy, distal myopathy, myotonic muscular dystrophy, and other myopathy)
- neuropathy (e.g., peripheral neuropathy, cranial neuropathy, autonomic neuropathy, focal neuropathy)
Who cannot join
- current use, history within the past two years of use, or eligible but declined use of Lumizyme® enzyme replacement therapy (applicable to LOPD group)
- history of stroke, Parkinson's disease, oculopharyngeal muscular dystrophy, head and neck cancer or radiation treatment to head/neck, or other conditions that commonly affect lingual strength
- inability to follow directions for study participation
Trial locations and contacts
1 site in 1 country.
United States1 site
Duke University Medical Center
Durham, North Carolina, 27710
About this study
Official title: Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. It is hypothesized that abnormalities in tongue function and structure in patients with LOPD may be useful in discriminating this condition from others that have similar presentations.
- Being tested
- Observational study
- Medical subject headings
- Muscular Diseases, Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational studyOther
The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements
| Study group | Role | What they receive |
|---|---|---|
| Late-Onset Pompe Disease | Not described Receives: Other: Observational study | |
| Acquired/Hereditary Myopathy | Not described Receives: Other: Observational study | |
| Neuropathy | Not described Receives: Other: Observational study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
Lingual strength will be rated with a validated 0-4 ordinal scale.
Score Description
0 - Normal strength, no weakness.
- - Mild weakness. The tongue can be overcome with effort.
- - Moderate weakness. Easy to overcome.
- - Minimal movement. Unable to protrude to either side.
- - No movement detected.
Measured: Day 1
Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)
Measured: Day 1
Secondary outcomes (2)
Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)
Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement.
Measured: Day 1
Echo intensity measured with ultrasound assessment utilizing grayscale analysis
Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. Echo intensity measurements consist of drawing a box over subcutaneous tissue and muscle areas of interest using the grayscale histogram function. This number will be recorded along with the standard deviation (grayscale analysis).
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 May 2016 (estimated)
- Study start25 May 2016
- Primary completion15 Jul 2019
- Study completion15 Jul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MyopathyStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Sponsor
- Investigators
- Harrison Jones, PhD, Principal investigator, Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02765828
- Sponsor's protocol ID
- Pro00068729
- Status last verified
- Jul 2021
- First submitted
- 22 Apr 2016
- Last updated
- 6 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)
- ClinicalTrials.gov ID
- NCT02765828
- Acronym / sponsor ID
- Pro00068729
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 73 participants (actual)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- 25 May 2016 (actual)
- Primary completion
- 15 Jul 2019 (actual)
- Study completion
- 15 Jul 2019 (actual)
- First posted
- 9 May 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. It is hypothesized that abnormalities in tongue function and structure in patients with LOPD may be useful in discriminating this condition from others that have similar presentations.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Late-Onset Pompe Disease | – | Other: Observational study |
| Acquired/Hereditary Myopathy | – | Other: Observational study |
| Neuropathy | – | Other: Observational study |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.
Key inclusion criteria (4 listed)
- age ≥ 12 years
- confirmed diagnosis of LOPD and naïve to enzyme-replacement therapy (ERT)
- acquired/hereditary myopathy (e.g., dermatomyositis, polymyositis, inclusion body myositis, limb-girdle muscular dystrophy, distal myopathy, myotonic muscular dystrophy, and other myopathy)
- neuropathy (e.g., peripheral neuropathy, cranial neuropathy, autonomic neuropathy, focal neuropathy)
Key exclusion criteria (3 listed)
- current use, history within the past two years of use, or eligible but declined use of Lumizyme® enzyme replacement therapy (applicable to LOPD group)
- history of stroke, Parkinson's disease, oculopharyngeal muscular dystrophy, head and neck cancer or radiation treatment to head/neck, or other conditions that commonly affect lingual strength
- inability to follow directions for study participation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational studyThe following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements | Other | Acquired/Hereditary Myopathy, Late-Onset Pompe Disease, Neuropathy |
Primary outcome
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
Time frame: Day 1
Lingual strength will be rated with a validated 0-4 ordinal scale. Score Description 0 - Normal strength, no weakness. 1. - Mild weakness. The tongue can be overcome with effort. 2. - Moderate weakness. Easy to overcome. 3. - Minimal movement. Unable to protrude to either side. 4. - No movement detected.
Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA)
Time frame: Day 1
2 secondary outcomes
Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)
Time frame: Day 1
Echo intensity measured with ultrasound assessment utilizing grayscale analysis
Time frame: Day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jul 2021.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Harrison Jones, PhD principal investigator
Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myopathy and Neuropathy, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description) (time frame: Day 1). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jul 2021.