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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

Tracking Information
First Submitted Date March 6, 2018
First Posted Date August 21, 2019
Last Update Posted Date August 21, 2019
Actual Study Start Date March 26, 2013
Estimated Primary Completion Date April 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 19, 2019)
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.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Myotubular and Centronuclear Myopathy Patient Registry
Official Title Myotubular and Centronuclear Myopathy Patient Registry
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.

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.

Study Type Observational [Patient Registry]
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration 1 Year
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Eligible participants from any country. Registration is voluntary, and initiated by participants.
Condition
  • Myotubular Myopathy
  • Myotubular Myopathy 1
  • Myotubular (Centronuclear) Myopathy
  • Centronuclear Myopathy
  • Centronuclear Myopathy, X-Linked
  • X-linked Myotubular Myopathy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 19, 2019)
500
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 2020
Estimated Primary Completion Date April 2020   (Final data collection date for primary outcome measure)
Eligibility 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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Jo Bullivant 0044 191 241 8640 joanne.bullivant@newcastle.ac.uk
Listed Location Countries United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT04064307
Other Study ID Numbers NUTH 7729
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust
Study Sponsor Newcastle-upon-Tyne Hospitals NHS Trust
Collaborators
  • Myotubular Trust
  • Murdoch University
Investigators
Principal Investigator: Chiara Marini Bettolo Newcastle-upon-Tyne Hospitals NHS Trust
PRS Account Newcastle-upon-Tyne Hospitals NHS Trust
Verification Date August 2019