Rare Disease Workgroup: Breakout Session Notes

1
Rare Disease Workgroup Breakout Session Notes

• GOAL
• Collaborative participation in clinical trials
  for rare disorders

2

• Challenge It is difficult to enroll subjects
  with rare disorders. How do you enroll from
  sites without a lot of research infrastructure?
  Paper-based case report forms (CRFs) -- physician
  completing forms has largely failed.
• Possible Solutions
• 1) Simplify eligibility criteria leading to
  simplified data collection and subjects being
  enrolled in a single visit. Web-based long term
  follow-up, data collection from home by subject,
  parent, or home site can expedite research.
• 2) Use travel funds to a single site.
• Challenge Scores of rare disorder registries,
  most of which are in different format, software,
  incompatible, not tied to biobanks, etc.

3

• Possible Solutions
• 1) Develop boiler plate language for informed
  consent forms (ICFs), protocols to address main
  issues in rare disease research. Workgroup
  members agreed to submit examples, templates,
  language.
• Example One investigator has an
  IRB-approved master protocol/ICF for molecular
  genetic testing that can be easily edited for
  expedited review for new molecular genetic
  testing. Obtain IRB/ethics experts review to ease
  acceptance by CTSA-wide IRBs.
• 2) Define common standard for software, format,
  CRFs, data entry, outcomes/endpoints. Modify it
  for specific (rare) disease of interest.
   Consider using CaBIG (NCI) platform.
• 3) Develop universal protocol/ICF natural
  history/registry for rare disorders

4

• Challenges
• 1) Some studies need to be at the national level
  to collect enough subjects.
• Example CDC has birth defects registry (Booz
  Allen Hamilton helps run this). Dr. Jeffrey
  Murray has done well with this.  
• 2) Some rare diseases become rapidly fatal even
  in infancy. There is no time to gain IRB
  approval for registry and biobank in addition to
  gaining IND approval.
• Possible Solution Develop a template for a
  registry study and have a biobank in place ahead
  of time using a modular approach. Intervention
  studies are more difficult consider development
  of IND template examples.

5

• Challenges
• 1) IRBs are less likely to approve protocols
  involving children and are less likely to grant
  an expedited review.
• 2) It is difficult to catalog rare disease
  registries, natural history studies, biobanks and
  clinical trials.
• Possible Solutions
• 1) Add ALL protocols to www.clinicaltrials.gov,
  which is searchable by age. Request for
  pediatrics, rare disease and CTSA fields to
  be added.
• 2) Use GeneTests website http//www.geneclinics.o
  rg, which already has diagnostics (including
  research), clinics, disorder review, resources
  and a link to www.clinicaltrials.gov. Add
  information re registries, longitudinal/natural
  history studies, biobanks and clinical trials.
•  

6

• PRIORITIES
• Template/example protocols, ICFs
• Universal Natural History Registry
• CTSA-wide networks for natural history,
  intervention studies rare diseases
• Uniform protocol, ICF for registries, biobanks
  and IND for infants with rare disorders who might
  die early. Obtain expedited review