Myotubular and Centronuclear Myopathy Patient Registry

Centronuclear Myopathy Clinical Trial

Official title:

Myotubular and Centronuclear Myopathy Patient Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04064307
• Other study ID #: NUTH 7729
• Status: Recruiting
• Start date: March 26, 2013
• Est. completion date: December 2022

Study information

• Verified date: July 2022
• Source: Newcastle-upon-Tyne Hospitals NHS Trust
• Contact: Jo Bullivant
• Phone: 0044 191 241 8640
• Email: joanne.bullivant[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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 and genetic or biopsy reports are provided by the participants and their doctors. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 2022
• Est. primary completion date: December 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Centronuclear Myopathy
• Centronuclear Myopathy, X-Linked
• Muscular Diseases
• Myotubular (Centronuclear) Myopathy
• Myotubular Myopathy
• Myotubular Myopathy 1
• X-linked Myotubular Myopathy

Locations

Country	Name	City	State
United Kingdom	Newcastle University	Newcastle Upon Tyne	Tyne And Wear

Sponsors (1)

Lead Sponsor	Collaborator
Newcastle-upon-Tyne Hospitals NHS Trust

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Patient questionnaire	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. No scales are collected. 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.	12 months