Myotubular and Centronuclear Myopathy Patient Registry

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]


Primary Outcome

Patient questionnaire


Condition

Myotubular Myopathy



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

500

Start Date

March 26, 2013

Completion Date

April 2020

Primary Completion Date

April 2020

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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Chiara Marini Bettolo, 0044 191 241 8640, [email protected]

Location Countries

United Kingdom

Location Countries

United Kingdom

Administrative Informations


NCT ID

NCT04064307

Organization ID

NUTH 7729


Responsible Party

Principal Investigator

Study Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Collaborators

 Myotubular Trust

Study Sponsor

Chiara Marini Bettolo, Principal Investigator, Newcastle-upon-Tyne Hospitals NHS Trust


Verification Date

August 2019