At the recent Enroll-HD Global Investigator Meeting a week ago, we learned that this soon-to-launch study sponsored by CHDI is intended to be more than observing progression in Huntington's disease (HD). It will enable investigators to do "add-on" studies that focus on specific populations (like Juvenile onset), or on "cure" efforts like the search for biomarkers, or preparatory study of new drugs before launching large scale trials, and to identify participants for clinical trials, etc.

But we also learned about an exciting new focus: Enroll-HD data may be used to improve HD care at HD treatment centers. And in a presentation by Kathryn Sabadosa from the Cystic Fibrosis Foundation we learned how this might be done.

The CF Foundation Quality Improvement Model

Like HD, Cystic Fibrosis (CF) is a rare genetic disease affecting about 30,000 individuals in the U.S. The defective CF gene results in production of thick mucous secretions that cause critical damage to lung and pancreas that most often presents in early childhood. The Cystic Fibrosis Foundation was started by a few CF affected families in 1955 -- when life expectancy was 1 year -- with the dual goals of finding a cure and improving care. Though a potential new drug is available that targets the abnormal gene for a subgroup of CF individuals looks positive in Phase 2 study, there is no cure. However since 1955 -- due to increased knowledge of the disease and the improved medical care by the use of inhaled medications which thin mucous and treat lung infections, and the provision of pancreatic enzyme supplements -- life expectancy for CF individuals has jumped to an average of about 38 years.

Importantly however, it is estimated that about 8 of those years of added life expectancy is due to CF Foundation "quality improvement" efforts at CF treatment centers. How did they do this? By effectively using CF registry data, and by winning physician acceptance and practice of CF Foundation quality improvement at their centers. Specifically, the CF Foundation:

  • Compared center outcomes -- or how well patients did as measured by "quality measures" like lung function, ideal weight (a measure of pancreatic function), age at death.
  • Identified the type of medical practice that correlated with better quality measure outcomes (4X/year visits, speed for which telephone patient problems were addressed, etc).
  • Encouraged early and "aggressive" management of patient problems.
  • Facilitated development of expert standard of care guidelines. Experts utilized available evidence base (when available), or when evidence base was lacking, expert consensus opinion was developed.
  • Checked compliance with developed standard of care measures.
  • Required transparency: center quality indicators were (and are) made public, and compared to both national average and other centers..
  • Provided incentive for center compliance by funding centers based on number of patients seen who have complete registry information.
  • Encouraged and engaged patient families to work with centers on quality improvement. Now over 40% of their 110 treatment CF treatment centers have an active patient and family advisory council.

This type of quality improvement can occur utilizing Enroll-HD data too. To accomplish this we would need:

  • Large numbers of Enroll-HD participants: The CF registry has 25,000 participants (out of an estimated 30,000 population in the U.S. To obtain the goal of 10,000 members, Enroll-HD will be a global registry including North America, South America, Europe, Australia, with projected extension into China.
  • Development of meaningful quality measures. Proposal for development of a committee to consider this work was made at the Enroll investigator meeting. These could be as simple as (1) appropriate visit interval (CF uses a 4X/year). Evaluation for behavioral and motor symptoms followed by treatment consistent with available expert practice.
  • Transparency of center outcomes, or compliance with standard of care guidelines is not a part of HSG or HDSA practice. Though this would be a major change in practice for any HD organization, CF leaders thought this a necessary step toward improving quality of care.
  • Center funding based on performance: At present Enroll-HD funding level from CHDI is dependent on number of patients who have complete data entry.
  • Encourage and empower families to participate in quality improvement

Author comments: Of course it will be harder to accomplish quality improvement in care for HD than for CF. We need large numbers of HD family participants. We need the development of quality measures. We need HD treatment centers and families to work together to improve quality of care. We can do this by incorporating the CF model.

But remember that no model -- even if perfect -- will be effective for HD if we, the families don't sign up. Go to the HD-Enroll website for updates, and when study sites open later this year in North America (later in Europe and South America) join this study -- and then recruit your family.