Objectives

The intent of the family portion of conference is to provide, in a condensed period of time, the most relevant information that will positively impact families’ daily routines of caring for an affected individual with a glycoprotein storage disease. The subjects presented will include overviews of Orphan Drug Development & Global Impact from the FDA; Approach of the Natural History Study for all nine supported diseases; Panel presentations on Therapies/Treatments with ERT, BMT and Bisphosphonates for Secondary Metabolic Bone Disease; Critical Surgical and Anesthetic Approaches with affected patients; Long Term and Pain Management Strategies and finally, Focus Groups for individual diseases. In addition to invited guests, participation of many of the clinicians and scientists from the scientific workshop will provide the necessary expertise for the half day session.  This will allow participants to share common ideas and resources and to map out the future for ISMRD.

Family Conference ~ Friday, July 27, 2007

• 12:00 -1:00pm – “Working Lunch” – ISMRD Welcome to Family Portion
  of Conference
• 12:45-1:00pm ISMRD Current and Future Focus – John Forman, President
  to introduce FDA.
• 1:00-1:20pm – FDA presentation on Orphan Rare Disease Drug Development –
  Global Impact
• 1:20-1:40pm Relevance of Newborn Screening, Global Perspectives
• 1:40pm Question/Answer Session
• 1:45-2:15pm – Therapeutic/Treatment Panel Presentation w/Question &
  Answer Session
• Dag Malm, PhD Norway – HUEMAN Project, ERT
• Charles Peters, PhD U.S./J. Kurtzburg, PhD, U.S.
• Jules LeRoy, Prof, PhD Belgium – BMT
• 2:15pm Short Break
• 2:30-3:15pm Panel Discussion: Therapies, the Family Perspective, Marc
  Patterson ,PhD moderator pros/cons of family panel on Enzyme Replacement Therapy and Bone Marrow Transplants
  Question & Answer Included
• 3:15-3:35pm – Surgical & Anesthetic Approach with Affected Patients of
  Storage Diseases
• 3:35-3:45pm Question/Answer
• 3:45-3:50pm Closing of General Session – Wrap Up/Announcements for
  Saturday Walk Run

 

Move to 3 Break Out Rooms

• 4:00-5:00pm - Focus Groups with at least one Physician/Research expert in each
  Group Discussion, Focus Groups to cover Long Range Planning and
  Care as well as individual disease group discussions relevant by the
  parents.
  • Mannosidosis/Fucosidosis
  • Mucolipidosis
  • Galactosialidosis/Sialidosis/Schindler Disease &
    Aspartylglucosaminuria

   

  
  End Day of Friday Session

  Families on their own for Friday Evening.

 

Download the Family Conference Registration now!