Another year has come and gone. I want to take a few minutes to update you on the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS). The purpose of CRIBBS is to advance scientific efforts to improve the health and quality of life of individuals affected by BBS. I want to begin by expressing my appreciation for your valuable time. Each time you participate in the annual interview or return a completed medical release form or encourage a friend on Facebook to join CRIBBS it makes a difference. Each fund raising event ranging from car washes to city-wide picnics to golf tournaments to 5K races makes a difference. Even when the donation is only a few dollars given by a grateful young person affected by BBS it makes a difference. Indeed, that simple donation makes all the difference in the world. I promise you that every penny donated to CRIBBS is wisely used to promote BBS research.
So what has CRIBBS and our efforts at Marshfield Clinic accomplished this year. I hope we have given you "HOPE". The setmelanotide trial to treat obesity in BBS is the direct result of CRIBBS. The trial has enrolled a small number of individuals in this phase 2 trial. The weight loss of participants is impressive and the improvement in cholesterol and blood sugar levels is encouraging. The trial is the first solid evidence that targeted therapies work extremely well in BBS. The post I sent out in November documents the impact of setmelanotide. If you did not receive that post please let me know and I can send it again. I anticipate that a phase 3 trial of setmelanotide in individuals with BBS will be opened in 2018. That trial will be an international trial so those residing outside the US can "HOPE" for opportunities too. Stay tuned and watch www.clinicaltrials.gov for the trial announcement! I will contact CRIBBS participants when the trial begins enrollment.
In 2017 we utilized CRIBBS to team up with a number of experts to expand understanding of BBS. I posted last spring information about the impact of dental health on systemic health in BBS. I appreciate the contributions of David McGlohon DDS, father of a child with BBS, in developing that post. In 2017 we published an article on the importance of dental health in BBS. The article was the team effort of experts from the Center for Oral and Systemic Health at Marshfield Clinic Research Institute and the CRIBBS team. A link to the article is provided at the end of this post. Please feel free to share it with your dentist.
In 2017 we teamed up with Marilyn Workinger PhD, Speech Pathologist, to provide guidance on speech development in BBS. That post was sent out in September. A publication will be submitted that speech pathologists and speech therapists can use as they help children with BBS improve communication skills. We are working with experts outside of the Marshfield Clinic including experts at the National Institutes of Health and several universities using information contained in CRIBBS. A paper on cutaneous (skin and hair) manifestations of BBS will be published later this year. I will post a link to that paper when it is published.
We are building a Center of Excellence for BBS that melds research efforts with outstanding clinical care. I am pleased that Sonia Suda has joined our team as the coordinator for BBS Clinical Services at the Marshfield Clinic. Sonia is championing the
clinical program so that more individuals can come to Marshfield Clinic for great care. We have also been joined by Jeremy Pomeroy, PhD. Dr Pomeroy is conducting research on sleep patterns in BBS. He presented his findings earlier this year at a meeting in Washington D.C. and I fully anticipate that you will hear much more from Dr. Pomeroy more during the coming years. Our center is benefited by the active interests of Drs. Hema Murali and Jaime Boero who many of you have met when you visited Marshfield Clinic. The interest of these individuals in sleep disorders in BBS is extremely beneficial. If you want to learn more about the comprehensive care provided at the BBS Center of Excellence please feel free to contact Sonia at her contact information below.
I want to close this email again by thanking you for your support of CRIBBS and my promise that the future for improving the health and quality of life for individuals affected by BBS is bright.
Dr. Robert Haws
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