Bethlem MyopathyNCT03693898
MR in Patients With Collagen VI Related Myopathies
A study testing Observeational in people with Bethlem Myopathy and Ullrich Disease, run by Ruth Salim at 1 site in Denmark.
Trial summary
Collagen VI-related diseases include Bethlem myopathy and Ulrich dystrophy. They are both caused by decreased levels or a lack of collagen VI. The first symptoms can be present at birth as joint laxity and hypotonic muscles; often seen with luxation of the hip and scoliosis. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Bethlem Myopathy, Ullrich Disease
- What is being tested?
- Observeational
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Sep 2018to 1 May 2019
- Phase
- Interventional
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- confirmed Bethlem myopathy or Ulrich disease
Who cannot join
- All contraindications for undergoing an MRI scan
Trial locations and contacts
1 site in 1 country.
Julia Dahlqvist, MD contact
Denmark1 site, 1 recruiting
- Recruiting
Copenhagen Neuromuscular Center
Copenhagen, Østerbro, 2100
Pia Hynne, +45 35 45 61 35
About this study
Official title: MR in Patients With Neuromuscular Diseases
Collagen VI-related diseases include Bethlem myopathy and Ulrich dystrophy. They are both caused by decreased levels or a lack of collagen VI. The first symptoms can be present at birth as joint laxity and hypotonic muscles; often seen with luxation of the hip and scoliosis. During childhood, patients may develop contractures of fingers, wrists, elbows and ankles. Muscle weakness often appears in childhood to early adulthood and is progressive. It often results in walking difficulties.
There is no treatment available for Behtlem and Ulrich dystrophies.
The primary aim of this study is to investigate the pattern of involved muscles, the function and quality of the muscles and the disease severity using MRI.
Read the detailed description
See above
- Conditions
- Bethlem Myopathy, Ullrich Disease
- Being tested
- Observeational
- Medical subject headings
- Bethlem myopathy, Scleroatonic muscular dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ObserveationalOther
No intervention, observational
| Study group | Role | What they receive |
|---|---|---|
| Persons with collagen VI defect | Other | Observational Receives: Other: Observeational |
What is being measured
The primary outcome is the main question the study is designed to answer.
Muscle fat fraction
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
Measured: One MRI scan pr subject (exam lasts approximately 60 min)
Secondary outcomes (1)
Muscle strength
MRC in order to test specific muscles in the subjects
Measured: Exam lasts approximately 40-60 min
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Oct 2018
- Study start1 Sep 2018
- Primary completion1 May 2019 (estimated)
- Study completion1 May 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bethlem MyopathyStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ruth Salim
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Ruth Salim, Copenhagen University Hospital, Rigshospitalet
- Investigators
- John Vissing, Prof., MD, Study director, CNMC, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03693898
- Sponsor's protocol ID
- H-18023049
- Status last verified
- Oct 2018
- First submitted
- 1 Oct 2018
- Last updated
- 10 Oct 2018
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Oct 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- MR in Patients With Neuromuscular Diseases
- ClinicalTrials.gov ID
- NCT03693898
- Acronym / sponsor ID
- H-18023049
- Conditions
- Bethlem Myopathy, Ullrich Disease
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Ruth SalimUniversity, hospital or other
- Study start
- 1 Sep 2018 (actual)
- Primary completion
- 1 May 2019 (estimated)
- Study completion
- 1 May 2019 (estimated)
- First posted
- 3 Oct 2018 (actual)
- 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.
Collagen VI-related diseases include Bethlem myopathy and Ulrich dystrophy. They are both caused by decreased levels or a lack of collagen VI. The first symptoms can be present at birth as joint laxity and hypotonic muscles; often seen with luxation of the hip and scoliosis. During childhood, patients may develop contractures of fingers, wrists, elbows and ankles. Muscle weakness often appears in childhood to early adulthood and is progressive. It often results in walking difficulties.
There is no treatment available for Behtlem and Ulrich dystrophies.
The primary aim of this study is to investigate the pattern of involved muscles, the function and quality of the muscles and the disease severity using MRI.
Detailed description
See above
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Persons with collagen VI defect | Other | Other: ObserveationalObservational |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- confirmed Bethlem myopathy or Ulrich disease
Key exclusion criteria (1 listed)
- All contraindications for undergoing an MRI scan
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 |
|---|---|---|
| ObserveationalNo intervention, observational | Other | Persons with collagen VI defect |
Primary outcome
Muscle fat fraction
Time frame: One MRI scan pr subject (exam lasts approximately 60 min)
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
1 secondary outcome
Muscle strength
Time frame: Exam lasts approximately 40-60 min
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Oct 2018.
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RecruitingObservational study
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Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
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.
Julia Dahlqvist, MD contact
John Vissing, Prof., MD study director
CNMC, Rigshospitalet
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Observeational in people with Bethlem Myopathy and Ullrich Disease, run by Ruth Salim at 1 site in Denmark.
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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 10 Oct 2018. 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 Denmark. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ruth Salim, stud.med (+45 24 64 84 87, ruth.salim.01@regionh.dk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Muscle fat fraction (time frame: One MRI scan pr subject (exam lasts approximately 60 min)). 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 10 Oct 2018.