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Bardet Biedl Syndrome Foundation

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

Launching a BBS Registry: A Path to Treatment

Over the last ten years research on the genetics of BBS has progressed by leaps and bounds. We know about almost 20 BBS genes. We know about cilia, intraflagellar transport and the BBSome group of proteins. That genetic knowledge has helped us understand some of the symptoms of BBS, from retinal degeneration to decreased sense of smell. But there are plenty of areas where mysteries remain: why does a cilia defect cause obesity? Why do people with BBS have low muscle tone? Why do some people with BBS have autistic tendencies? Why does BBS affect people with the same gene so differently?

These are important mysteries to solve because they are the next step toward the ultimate goal: finding effective treatments for the symptoms of BBS. So how do we solve these mysteries? And how do we accelerate
the progress toward finding treatments? The first challenge is gathering information about how BBS affects people. Because there are so many genes and every person with BBS has a different set of symptoms, it’s
very hard to establish patterns. To see those patterns and to know that they are real, researchers need access to a larger pool of data about BBS families. To be able to test hypotheses and develop treatments they
need to be able to easily find BBS families with certain genes and certain symptoms.

To save time and money in the process, researchers need access to clinical information—bloodwork, sonograms, ERGs, OCTs, ECGs—so they don’t have to redo all those tests. To attract funding for clinical trials
of possible treatments, researchers need to show the organizations that fund such trials that they can find enough patients to participate in studies. In other words, the most important step right now to accelerate
understanding BBS and developing treatments and courses of care is a registry.

A registry is a central store of genetic and clinical data for patients affected by a particular syndrome or disease. You may have heard of the National Bone Marrow Registry—a store of information about all the people who are in need of a bone marrow transplant or are willing to donate bone marrow.

Many rare diseases have registries because they are so useful to researchers. The Foundation Fighting Blindness is launching a registry for patients affected by retinal degeneration. That registry however will only collect data about vision, not any other symptoms. That’s why we need a BBS Registry.

In short, a registry:

• Brings together genetic and clinical information
• Accelerates research into effective treatments
• Attracts researchers
• Makes it easier for researchers to find funding.

Building a registry is not a small undertaking. Because a registry contains highly sensitive medical information it has to meet all the highest standards for privacy and security. Only screened researchers get access to the registry. Each person’s record is anonymized so that specific individuals can’t be identified without their explicit consent. The technology has to be in place to allow the registry to efficiently store and sort a large volume of information.

As part of its work establishing the Center of Excellence, the Marshfield Clinic has agreed to host and partially fund the development of a BBS registry. It’s a big help to have the registry hosted at a clinical center. All patients who visit the Center of Excellence can easily transfer their medical records for the registry. Marshfield also has all the necessary experience to manage compliance with federal HIPAA and privacy regulations. Dr. Bob Haws has already begun to collaborate with the National Institutes of Health rare disease registry group to design the BBS registry. However, a great deal of technical work needs to be done to actually build the registry. And that costs money. We are making the registry a top priority for fundraising and will be launching a number of programs in conjunction with the Marshfield Clinic to allow members of the Bardet Biedl Syndrome to participate in fundraising efforts. Stay tuned for more information about the BBS Registry. We’ll be talking more about it and gathering data for the registry from families at our 2014 conference.