MDA Translational Research Program

SUMMARY and RECOMMENDATIONS OF THE BREAK-OUT GROUPS MD Clinical Research Coalition Meeting
Tucson, AZ
June 11-12, 2004

I. NATURAL HISTORY/GENETICS

Final recommendations:

1. Support a meeting of the minds to form a clinical research “coalition”
2. Support infrastructure for natural history studies
3. Support genotyping on a national level
4. Support a database that includes curated [sic], de-identified clinical data
5. Establish/support a core group of clinical evaluators

II. MEDICAL MANAGEMENT

Final Recommendations:

1. Establish working groups to develop standards for a national caolition
2. Establish core facilities to screen testing methods and coordinate data collection protocols for cardiac, pulmonary, orthopedic complications of DMD including:
   
   • Standard equipment
     
   • Standard questionnaire
     
   • Standard parameters
     
3. Develop plans to accommodate technology changes over time
4. Develop a list of protocols centered around medical management that could sustain a clinical trials group during the “lean” years. For example:
   
   • Cardiac---effects of afterload reduction and bilevel ventilation on cardiac and pulmonary function
     
   • Orthopedic---management of osteoporosis
     
   • Pulmonary---Effect of bilevel ventilation on quality of life

III. THERAPEUTICS

Final recommendations:

1. Feed the therapeutic pipeline
   
   • Support academic and biopharmaceutical target screening
     
   • Continue support for translational efforts
     
2. Define patient populations in a centralized fashion in regard to the following parameters:
   
   • Epidemiology (to focus indication and assess study accrual feasibility)
     
   • Natural history (to determine treatment effect sizes and new endpoints)
     
   • Burden of disease (to evaluate pharmacoeconomic potential of a new therapy)
     
   • Genotype (to correlate with all of the above and selection patients for clinical trials)
     
3. Support infrastructure to standardize and centralize diagnostics and outcomes, such as:
   
   • Full-length sequencing (to correlate genotype with therapeutic efficacy and safety)
     
   • Additional diagnostic methods (muscle MRI, DEXA cardiac assessment, other biomarkers)
     
   • Correlations between biomarkers and clinical benefit parameters
     
   • Clinical evaluation parameters (training & retraining)
     
   • Long-term (eg, 5-year) support for clinical evaluators and study coordinators
     
4. Expand communications. Develop relationships with
   
   • Government granting agencies (to provide funds)
     
   • FDA (to enhance understanding of benefit:risk in DMD)
     
   • Drug companies (to make marketed drugs available for testing in DMD)
     
   • Parents (to ensure accrual of patients to studies while managing expectations)

IV. ORGANIZATION

This group identified the need for a coalition of independent groups to pull together existing resources as well as develop new means to foster further clinical research in DMD, foster training of investigators and other staff, and satisfy the needs of all stakeholders. To achieve these goals a milestone driven plan was put forward.

Final Recommendations:

1. Define the stakeholders and establish a development team by July, 2004
2. Develop a draft mission, vision, goals, and organizational structure by September 2004
3. Investigate funding sources starting now
4. Apply for funding of the next meeting (December 2004)
5. Inaugural meeting of the coalition to occur Spring or Summer of 2005.

*Note: A detailed publication on this meeting is planned.