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Trial record 10 of 12 for:    Myotubular Myopathy

Myotubular and Centronuclear Myopathy Patient Registry

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ClinicalTrials.gov Identifier: NCT04064307
Recruitment Status : Recruiting
First Posted : August 21, 2019
Last Update Posted : August 21, 2019
Sponsor:
Collaborators:
Myotubular Trust
Murdoch University
Information provided by (Responsible Party):
Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust

Brief Summary:

The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.

More details and online registration are available at www.mtmcnmregistry.org.


Condition or disease
Myotubular Myopathy Myotubular Myopathy 1 Myotubular (Centronuclear) Myopathy Centronuclear Myopathy Centronuclear Myopathy, X-Linked X-linked Myotubular Myopathy

Detailed Description:

The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust and Muscular Dystrophy UK.

Participants register online and must provide consent before accessing the registry questionnaire. The clinical data are provided by the participants, and the genetic data are obtained by the Registry Curator via the genetic report.

The MTM & CNM Registry aims to:

  • Help identify patients for relevant clinical trials as they become available.
  • Encourage further research into myotubular and centronuclear myopathy.
  • Provide researchers with specific patient information to support their research.
  • Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients.

The investigators welcome the registration of:

  • All patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
  • Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
  • Any patient who is deceased, but who had a confirmed diagnosis.

This is an online registry and is hosted on the RDRF (Rare Disease Registry Framework) by Murdoch University.

More details and online registration are available at www.mtmcnmregistry.org.


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Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 1 Year
Official Title: Myotubular and Centronuclear Myopathy Patient Registry
Actual Study Start Date : March 26, 2013
Estimated Primary Completion Date : April 2020
Estimated Study Completion Date : April 2020





Primary Outcome Measures :
  1. Patient questionnaire [ Time Frame: 12 months ]
    Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Eligible participants from any country. Registration is voluntary, and initiated by participants.
Criteria

Inclusion Criteria:

  • Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
  • Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
  • Any patient who is deceased, but who had a confirmed diagnosis.

Exclusion Criteria:

- None


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04064307


Contacts
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Contact: Jo Bullivant 0044 191 241 8640 joanne.bullivant@newcastle.ac.uk

Locations
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United Kingdom
Newcastle University Recruiting
Newcastle Upon Tyne, Tyne And Wear, United Kingdom, NE1 3BZ
Contact: Jo Bullivant    0044 191 241 8640    joanne.bullivant@newcastle.ac.uk   
Principal Investigator: Chiara Marini Bettolo         
Sponsors and Collaborators
Newcastle-upon-Tyne Hospitals NHS Trust
Myotubular Trust
Murdoch University
Investigators
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Principal Investigator: Chiara Marini Bettolo Newcastle-upon-Tyne Hospitals NHS Trust

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Responsible Party: Chiara Marini Bettolo, Consultant Neurologist and Clinical Lead, John Walton Muscular Dystrophy Research Centre. Clinical Lead of the Highly Specialised Service for Rare Neuromuscular Diseases, and Honorary Clinical Research Associate at Newcastle University, Newcastle-upon-Tyne Hospitals NHS Trust
ClinicalTrials.gov Identifier: NCT04064307     History of Changes
Other Study ID Numbers: NUTH 7729
First Posted: August 21, 2019    Key Record Dates
Last Update Posted: August 21, 2019
Last Verified: August 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust:
Registry
Patient Registry
Myotubular
Centronuclear
Myopathy
Additional relevant MeSH terms:
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Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases