Myotubular and Centronuclear Myopathy Patient Registry | NCT04064307

Studies
Myotubular and Centronuclear Myopathy Patient Registry

NCT04064307

Sponsor

Newcastle-upon-Tyne Hospitals NHS Trust

Status

Recruiting

Last Update Posted

Apr 9, 2025Actual

Enrollment

500Estimated

Phase

Not provided

Conditions

Myotubular Myopathy
Myotubular Myopathy 1
Myotubular (Centronuclear) Myopathy
Centronuclear Myopathy
Centronuclear Myopathy, X-Linked
X-linked Myotubular Myopathy

Interventions

Not provided

Countries

United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Mar 26, 2013Actual

Primary Completion Date

May 2025Estimated

Completion Date

May 2025Estimated

First Submitted Date

Mar 6, 2018

First Submission Date that Met QC Criteria

Aug 19, 2019

First Posted Date

Aug 21, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 7, 2025

Last Update Posted Date

Apr 9, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Chiara Marini Bettolo, Professor 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 TrustPrincipal Investigator

Lead Sponsor

Newcastle-upon-Tyne Hospitals NHS TrustOTHER

Collaborators

Name	Class
Myotubular Trust	UNKNOWN
Muscular Dystrophy UK	UNKNOWN
Astellas Gene Therapies	INDUSTRY
Astellas Pharma Inc

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

1 Year

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

500Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Eligible participants from any country. Registration is voluntary, and initiated by participants.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Julie Bohill	Contact	0044 191 241 8640		julie.bohill@newcastle.ac.uk

Overall Officials

Name	Affiliation	Role
Chiara Marini Bettolo	Newcastle-upon-Tyne Hospitals NHS Trust	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Newcastle University	Recruiting	Newcastle upon Tyne	Tyne and Wear	NE1 3BZ	United Kingdom

Condition Browse Module

MeSH Terms

ID	Term
D020914	Myopathies, Structural, Congenital
D009135	Muscular Diseases

Ancestor Terms

ID	Term
D009140	Musculoskeletal Diseases
D009468	Neuromuscular Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided