Three-year action plan

Activity

Task

Task Leader

1 - Biobanking for neuromuscular research

1 -

Promote the use of human biomaterials in NMD research

Maintain a centralised, searchable online catalogue and an informational website enabling researchers to source standardized biomaterial worldwide from a single source.

2 -

Increase the availability of human biomaterials in NMD research

Recruit additional approved biobanks to expand and develop the collection of biomaterials.

3 -

Network with other biobanking initiatives

Network with similar initiatives to avoid duplication of effort whilst sharing knowledge and experience.

4 -

Improve the quality of human biomaterials in NMD research

Improve overall quality control of biomaterial samples, assess benefits of achieving ISO certification and develop methods for linking samples with clinical data.

5 -

Develop and standardise new biomaterial types for NMD research

Develop and standardise new cell lines and other biomaterials in order to meet the growing needs of researchers.

6 -

Leverage academic and industrial use of NMD biomaterials in research

Develop a standardised pricing model for access to biobank material in order to assist with sustainability of affiliated biobanks.

2 - Patient registries

1 -

Coordination and oversight of global patient registries for DMD, SMA and DM1

Ensure the global database is maintained, data types remain uniform and enquiries are handled proficiently.

2 -

Data quality assurance

Improve the quality and completeness of the current dataset and ensure annual updates are achieved.

3 -

Utilise registries for industry-sponsored studies

Improve services to industry and explore the possibility of implementing a cost recovery model assist with long term sustainability.

4 -

Utilise registries for academic studies and spin-off projects

Increase academic usage of registries and develop a standardised cost recovery model for academia.

5 -

Utilise registries for patient information, education and participation

Use the registries to contact patients with information relevant to their disease with the aim of enhancing the bond that currently exists between patients and TREAT-NMD.

6 -

Develop new gene-based NMD registries for additional diseases

Support PIs in the development and launch of new gene-based registries of other NMDs by offering advice, expertise and a registries toolkit.

7 -

Support the establishment of additional national registries for DMD, SMA & DM1

Develop a helpdesk and toolbox for those countries interested in creating their own national registry to feed into the currently active global registries for DMD, SMA & DM1.

8 -

Provide “ready to use” IT solutions for national and international registries

Develop a common software platform for those creating a new registry. Training and advice to be given. Seek to align global and national database systems where differences occur.

9 -

Further develop patient registries to link additional data types

Establish and develop linkage between the registries, biobanks and clinical trial data. Support development of registries to enable collection of natural history studies.

10 -

Set up common surveillance registry platform for DMD and other conditions

Develop a centralised  post-marketing surveillance database that will allow drug treatments to be carefully tracked and monitored in separate secure modules once marketing approval is granted. Existing patient registries can be linked to this centralised database.

3 - Care and Trial Site Registry - CTSR

1 -

Ensure quality and quantity of data in the CTSR

Develop further the quality of data and range of information and disease types represented by the CTSR. Introduce systematic updates to all information.

2 -

Service offers, infrastructure

Provide disease specific expertise for trial selection. Develop a core dataset to allow data exchange between other rare disease registries and the CTSR

4 - Outcome Measures

1 -

Review and selection of existing measures

Systematically review functional rating scales for adult muscle disease and identify other generic rating scales which could also be introduced. Assess the adequacy of those currently used in order to create a shortlist of high quality functional rating scales applicable to adult muscle disease.

1.1 -

Assisting in the choice of outcome measures for clinical trials in facioscapulohumeral muscular dystrophy (FSHD)

Conduct a survey and assess the quality of the outcome measures ccurrently being used in FSHD. Take a Rasch analysis of manual mmuscle ttesting data from previous FSHD trials. Publish the results.

1.2 -

Assisting in the choice of outcome measures for clinical trials in inclusion body myositis (IBM)

Conduct a survey and assess quality of outcome measures used in Inclusion Body Myositis. C. Collect data on functional rating scales and manual muscle testing and conduct Rasch analysis. PPublish the results.

2 -

Development of upper limb module for non-ambulant SMA

Undertake validation studies and cross correlate with existing measures, the recently developed upper-limb module for non-ambulant SMA patients. Conduct Rasch analysis on upper limb module data

3 -

Assessment of non-ambulant DMD

4 -

New methods of assessing strength and function of the upper limb

Use dynamometers designed to record grip (MyoGrip), pinch (MyoPinch), and wrist (MyoWrist) and MRI of the upper limb in an observational study conducted in London, Newcastle and Paris for patients treatable by exon skipping therapy.

5 -

New methods of assessing daily activity in non-ambulant patients

Assess patients' daily activity and motivation throughout a clinical trial via a wrist monitor.

6 -

Development of new methods of assessment for young infants with DMD

Support for harmonization of protocols that could be used to assess the early phases of motor and general aspects of development in infants affected by DMD.

7 -

Promoting natural history data collection in SMA and DMD

Coordinate natural history data collection and establish any possible effect of regional differences, and different standards of care across countries. Implement standardised training and improve inter-observer reliability across centres.

8 -

Analysis techniques to prepare motor performance scales for clinical trials

Develop disease-appropriate scales to measure effective changes in various NMDs based on an established working model taken from DMD.

9 -

Further development of MRI and MRS as a quantitative outcome measure

Further develop and refine quantitative NMR protocols that may be reliably applied in a multicentric setting to enable these techniques to be used as non-invasive outcome measures in clinical trials and natural history studies.

10 -

Identification of the most appropriate biochemical outcome measures to use in DMD clinical trials

Further standardize methods for quantifying dystrophin concentration in skeletal muscle biopsies. Develop and disseminate SOPs to quantify dystrophin levels in DMD/BMD muscle biopsies.

11 -

Gait characterization by accelerometry

Development of systematic measurement of gait using accelerometry to accompany the qualitative data already collected.

12 -

Refining methods

Further refine evaluation of the strength of flexion and extension around the ankle and knee joints with specific dynamometry for the ankle or with an isokinetic dynamometer for the knee. Extend these methods through various NMDs.

5 - Standards of diagnosis and care

1 -

Update standards of diagnosis and care

Update existing standards of care for DMD and SMA to take account of new data. Update family guides correspondingly.

1.1 -

Establish standards of care for facioscapulohumeral muscular dystrophy (FSHD)

Develop and publish international standards of care for FSHD. Create a patient/family friendly version of the SOC that will empower those with FSHD seeking the best care for themselves. Develop translations of the patient friendly document.

1.2 -

Establish standards of care for inclusion body myositis (IBM)

Develop and publish international standards of care for IBM. Create a patient friendly version of the SOC that will empower those with IBM seeking the best care for themselves. Develop translations of the patient friendly document.

1.3 -

Establish standards of care for myotonic dystrophy

Develop and publish international standards of care for myotonic dystrophy. Create a patient friendly version of the SOC that will empower those with myotonic dystrophy seeking the best care for themselves. Develop translations of the patient friendly document.

2 -

Develop a platform for developing, updating, and assessing Standards of Care

Set up a web-based platform to assist with various aspects of standards of care documentation such as monitoring of quality and version control.

3 -

Assess dissemination and implementation of diagnosis and care standards

Evaluate already developed standards of care for DMD, SMA and CMD. Develop and distribute a questionnaire to families and professionals. Develop and distribute a questionnaire to trial sites.

4 -

Assess standards of care outcome measures in patient registries - natural history studies

Make use of patient registries to develop a natural history study. Assess the impact of care recommendations and overcome regional/national differences in outcomes.

6 - TREAT-NMD Advisory Committee for Therapeutics - TACT

1 -

TREAT-NMD Advisory Committee for Therapeutics (TACT)

Arrange and conduct a 6 monthly review meeting and produce reports to applicants based on recommendations of the expert reviewers. Disseminate non-confidential output from TACT, engage with funders, solicit and follow up on potential applicants.

7 - Web and Communications Resources

1 -

Public website

Monitor, update and develop further the information on the TREAT-NMD website. Implement any updates and amendments to the content management system as required.

2 -

Internal communication tools

Monitor, assist with and update the TREAT-NMD intranet/collaborative filesharing resource. Maintain existing mailing lists and creation of new mailing lists for each new activity that requires it. Assist users with any issues that arise when using the facility.

3 -

Electronic newsletter

Create and send monthly electronic newsletter for NMD stakeholders. Maintain and develop newsletter system and mailing list of recipients.

8 - Joint research for DMD

1 -

Exon skip workshops

Organization of approximately 2 exon skipping workshops a year with topics based on necessity, hosting to be rotated between partners.

9 - Standard operating procedures

1 -

Standard protocols and research tools for preclinical efficacy studies

Improve standardization of preclinical efficacy studies by implementing use of standard protocols and by developing additional research tools.