2016 is now winding down to a close so I want to give an update on the Clinical Registry Investigating BBS (CRIBBS) and the efforts at the Marshfield Clinic to improve the health and quality of life of those affected by Bardet-Biedl syndrome.
As of today we have enrolled 289 individuals in CRIBBS. That is huge. Let me explain why. First, CRIBBS has brought attention to the needs of individuals with BBS. I was contacted this spring by a research group interested in learning more about BBS and what CRIBBS was all about. That initial contact in June has evolved into the opportunity of being selected to participate in an international trial using a medication called setmelanotide. Setmelanotide is a small protein that turns off appetite "downstream" from leptin and thereby signals the brain and body to not be hungry. We will be enrolling our first patients in the clinical trial in January 2017. If this therapy proves successful it will be a breakthrough in the health needs of many individuals with BBS. It also represents the first clinical trial of any pharmacologic therapy for individuals with BBS. This year I also met with a two other pharmaceutical companies that are interested in developing therapies for BBS. That attention has come to the BBS community because of CRIBBS.
A second benefit of CRIBBS is the opportunity to provide information to physicians and researchers interested in BBS. We published in 2016 a paper on kidney transplant outcomes in BBS. I have been contacted by multiple doctors asking about their patients that may need a kidney transplant. I believe this paper helps doctors know that kidney transplantation is a viable option when needed. Fortunately we found that only about 10% of individuals with BBS ever need a kidney transplant. Because of CRIBBS we have provided information necessary for researchers to further their academic interests in BBS. We have assisted researchers in grant support. This is important because research will result in treatments and better understanding.
A third benefit of CRIBBS is that it provides unique understanding and observations about BBS. We have learned that epilepsy occurs more commonly in BBS but most individuals will outgrow that problem. We are learning that some relatively common conditions such as Hashimoto’s thyroiditis and sleep apnea are more common in BBS than expected while rare conditions such as Blount’s disease and primary ciliary dyskinesia occur in BBS too. Without CRIBBS we would not be able to put this information together.
Our goals for 2017 are ambitious.
1) We intend to conduct a clinical trial examining the safety and efficacy of setmelanotide in the treatment of excessive hunger (hyperphagia) in BBS. I believe this medication holds a great deal of promise for BBS.
2) We will open a trial examining the efficacy of interventional behavioral therapy and cognitive behavior therapy to achieve weight loss in BBS. This therapy will be conducted by telemedicine and delivered directly by Internet connections to your home.
3) Publications on speech development in BBS and epilepsy in BBS will be submitted this year.
4) The Treatment Center for BBS will work to open the doors to permit a larger number of individuals with public and private insurance to attend our Center. This is especially important to me. I am pleased to announce that we have received funding to hire personnel to achieve this goal.
5) We hope to reach an enrollment goal of 350 individuals in CRIBBS. We will need your help!
I express my deepest appreciation to all of you including my amazing team here at Marshfield Clinic for your support. I deeply appreciate each of you that participate in CRIBBS. You make this all possible. I extend my deepest appreciation to the BBSFA that provide vital financial support for CRIBBS. If you are looking for a great donation for the end of the year I encourage you to donate to the BBSFA or directly to CRIBBS at the links provided below (both organizations provide tax deductible donation opportunities).
Again, thank you and please keep on helping CRIBBS!
Bob Haws, M.D.
www.facebook.com/BardetBiedlSyndromeFamilyAssociation
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