Clinical trial NCT04064307: Myotubular and Centronuclear Myopathy Patient Registry
Official title: Myotubular and Centronuclear Myopathy Patient Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Myotubular Myopathy
Myotubular Myopathy 1
Myotubular (Centronuclear) Myopathy
Centronuclear Myopathy
Centronuclear Myopathy, X-Linked
X-linked Myotubular Myopathy
Keywords: Registry
Patient Registry
Myotubular
Centronuclear
Myopathy
Lead sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
Sponsor class: OTHER
Collaborators: name: Myotubular Trust
name: Muscular Dystrophy UK
name: Astellas Gene Therapies
name: Astellas Pharma Inc
First posted: 2019-08-21
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible participants from any country. Registration is voluntary, and initiated by participants.

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, Muscular Dystrophy UK and Astellas Gene Therapies.

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.

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

Primary outcomes:
measure: Patient questionnaire
timeFrame: 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Newcastle Upon Tyne
country: United Kingdom
facility: Newcastle University
state: Tyne and Wear
Study officials:
affiliation: Newcastle-upon-Tyne Hospitals NHS Trust
name: Chiara Marini Bettolo
role: PRINCIPAL_INVESTIGATOR
References: