October 2014Press Release
NIH's ORDR-NCATS RDCRN and NICDH Awards a U54 Cooperative Agreement for Rett Syndrome, CDKL5 Disorder, MECP2 Duplications Disorder, and FOXG1 Syndrome Natural History Study Research Consortium
National Institute of Health (NIH) announced awards to expand the Office of Rare Diseases Research part of the National Center for Advancing Translational Sciences (ORDR-NCATS) collaborative Rare Diseases Clinical Research Network (RDCRN). Through the network, physician scientists at 22 consortia will work with 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible by $29 million in fiscal 2014 funding from NIH.
Rett Syndrome, MECP2 Duplications and Rett-Related Disorders (CDKL5 and FOXG1) represent one of the 22 consortia funded by the U54 cooperative agreement award with the National Institute of Child Health and Human Development (NICHD).Led by Alan K. Percy, M.D., University of Alabama at Birmingham, this project involves clinical research into four disorders of the nervous system: Rett syndrome (RTT), MECP2 Duplication disorder, CDKL5 disorder, and FOXG1 syndrome. These conditions strike previously healthy-seeming children early in their lives and can lead to seizures, difficulty with fine motor control and walking, and intellectual disability.
The research center's work takes the form of a natural history study with three major goals over the next 5 years, at $1.25m per year:
- Identify and understand the core clinical features of each disorder;
- Identify factors that can modify the severity of the disorders; and
- Understand the relationship between patients' symptoms and their brain imaging and electroencephalography alterations.
Under the leadership of Dr. Alan Percy, the study will involve:
Nine PARTICIPATING sites:
- University of Alabama at Birmingham - Alan K. Percy, MD
- Baylor College of Medicine, Texas Children's Hospital - Daniel G. Glaze, MD
- Harvard Medical School, Boston Children's Hospital - Walter E. Kaufmann, MD
- Greenwood Genetics Center - Steven A. Skinner, MD
- Children's Hospital of Pennsylvania - Eric D. Marsh, MD PhD
- University of Rochester Medical Center - Alex R. Paciorkowski, MD, FACMG
- University of Colorado Medical School, Denver - Timothy A. Benke, MD PhD
- University of California, San Diego, Rady Children's Hospital - Jeffrey L. Neul, MD PhD
- Vanderbilt University Medical Center - Sarika U. Peters, PhD
- Rush University Medical Center - Peter T. Heydemann, MD
- University of California San Francisco Benioff Oakland Children's Hospital - Mary Jones, MD
Janet Woodcock, M.D., Director of FDA's Center for Drug Evaluation and Research (CDER), writes in FDA Voice, the FDA's official blog: "The more we know about rare diseases, the more likely we are to find safe and effective treatments. If you add them all [7,000 rare diseases] together, there are about 30 million - or almost one in ten - people in the U.S. with some form of rare disease. Sadly, although great progress has been made in some areas, many of these people have no FDA approved drug to cure their condition, help them feel better, or even slow the disease's progress.
Well-conducted studies of natural history can yield vital information about:
- Biomarkers, demographic, genetic, and environmental variables that correlate with the course and stages of the disease;
- Identification of patient subpopulations with different characteristics and effects of the disease;
- Patient perspectives on what aspects of disease are most important to treat; and,
- How to quantify those aspects so that they can serve as useful outcome measures for clinical trials.
The FDA is committed to working with patient advocates and other organizations to support natural history studies for rare diseases. We encourage the use of natural history data collection tools to describe natural history for many rare diseases. It is our deeply felt hope and wish that we can then take steps toward developing and approving new therapies for persons with rare diseases." (blog excerpt 10/23/2014)
The International Foundation for CDKL5 Research will take an active role in this endeavor as a member of the Coalition of Patient Advocacy Groups (CPAGs) within the RDCRN.
ABOUT CDKL5 DISORDER
CDKL5 Disorder is a rare neurological disorder that affects girls and boys within the first few months of life, causing debilitating and refractory seizures, severe neuro-developmental impairment and multi-organ involvement. Children diagnosed with CDKL5 disorder often cannot walk, talk or feed themselves, and are often confined to a wheelchair. Many suffer from scoliosis, cortical visual impairment and severe gastrointestinal symptoms. Communication is difficult for children with CDKL5, which can be isolating and frustrating. We believe that children with CDKL5 disorder understand what is going on around them, but are unable to express themselves.
ABOUT INTERNATIONAL FOUNDATION FOR CDKL5 RESEARCH (IFCR)
IFCR is the only international foundation dedicated to the CDKL5 gene, and is the leading organization for research, spreading awareness, and support for families. IFCR has funded three CDKL5 Centers of Excellence to improve the quality of care children with CDKL5 receive, as well as a database registry. IFCR hosts international science symposia and family conferences. We promote cooperation and collaboration among scientists and clinicians, and encourage basic science, translational and innovative clinical research.
To learn more about our work and CDKL5 Disorder, visit www.CDKL5.com.
August 1, 2013
International Foundation for CDKL5 Research Announces Location of its Second CDKL5 Center for Excellence
The International Foundation for CDKL5 Research (IFCR) is proud to announce that the location of its second CDKL5 Center for Excellence will be at the prestigious Boston Children's Hospital in Boston, Massachusetts.
CDKL5 Centers for Excellence are the only multidisciplinary clinics for the treatment of people, a majority of whom are children, with a CDKL5 Disorder (CDKL5), which is a devastating genetic condition resulting in early-onset, difficult-to-control seizures, and severe neuro-developmental impairment.
"After an extensive search of top notch medical facilities on the East Coast for our second CDKL5 Center for Excellence location, we found that Boston Children's Hospital was the perfect pairing of medical expertise and research initiatives into this condition that so tragically affects those suffering with CDKL5" said Dr. Katheryn Elibri Frame, IFCR President and mother of an affected child. "IFCR's vision in establishing these centers is to foster physician expertise in CDKL5, and thereby establish diagnostic, therapeutic and preventative standards of care. We are proud to partner with Boston Children's Hospital in order to improve the quality of life and to find a cure for our children."
The new CDKL5 Center for Excellence will be led by Dr. Walter Kaufmann, esteemed Director of the Rett Syndrome Program at Boston Children's Hospital, and Dr. Heather Olson, with the hospital's Epilepsy Genetics program. Dr. Kaufmann leads a team of specialists with expertise in Rett Syndrome (RTT), which is a degenerative disorder that is similar to CDKL5 Disorders in its presentation and symptoms but is more common than CDKL5. RTT affects 1 in 10,000 female births, while CDKL5 affects both males and females, however the true incidence of CDKL5 is not known at this time. There are as many as 600 people worldwide to date, although the number is growing rapidly as genetic testing for this condition becomes more comprehensive and affordable.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development and function. Although little else is yet known about the protein's function, it likely plays a role in regulating the activity of other genes. One of these other genes that CDKL5 is believed to regulate includes the MECP2 gene, the alteration of which is responsible for a majority of cases of RTT, hence the reason for overlapping symptoms and similar medical needs among patients with either condition.
The CDKL5 Center For Excellence at Boston Children's Hospital will hold monthly clinics starting this fall. The comprehensive, multidisciplinary clinic provides each patient with many different specialists over the course of one afternoon. These specialties include neurology, epileptology, gastroenterology/nutrition, neuro-ophthalmology, genetics, sleep specialists, and more. Making it a truly unique experience, each of these specialists is committed to being a CDKL5 expert, relative to his or her respective specialty.
The clinic's patients are given personalized recommendations for treatment, tests, and therapies, and are then followed by a nurse coordinator throughout the year. The patient comes away from the clinic with a comprehensive treatment plan that can be instrumental in guiding his or her local educational, therapeutic and medical teams.
The CDKL5 Center for Excellence at Boston Children's Hospital is the second of its kind. The first CDKL5 Center for Excellence was announced in February of this year, and the first of its quarterly clinics concluded earlier this month. It is held in conjunction with the Rett Syndrome Clinic at Children's Hospital Colorado near Denver and is a partnership with the Rocky Mountain Rett Association. A third location in the Midwest United States will be selected by the end of 2013.
To learn more about the Rett Syndrome Clinic at Boston Children's Hospital, please visit: Rett Clinic Boston Childrens
Joint Funding with the International Rett Syndrome Foundation (IRSF)
The International Foundation for CDKL5 Research is proud to announce co-funding of a grant with the International Rett Syndrome Foundation for a joint research project that is looking closely at the interaction between CDKL5 and MeCP2. It is our sincere honor to collaborate with IRSF again, as we recognize and appreciate our many common goals and interests, and in this case, the close molecular interaction between our two disorders. We believe collaborating on projects that are relevant to our respective organizations is a fundamental example of rare diseases showing strength, unity and commitment.
Dr. Janice Ascano, IRSF Grant and Research manager: "IRSF is pleased to announce the partnership with IFCR to jointly fund a basic research award to Dr. Charlotte Kilstrup-Nielsen, who has been working on the interactions between CDKL5 and MeCP2 proteins, and her project aims to explain how MeCP2 dysfunctions cause RTT conditions while understanding how CDKL5 functions in the brain. IRSF believes this is a collaboration that has worked in the past and is excited to have the opportunity to work with IFCR again to further research for both MeCP2 and CDKL5 related disorders."
Dr. Charlotte Kilstrup-Nielsen from the University of Insubria in Italy has much experience studying CDKL5 and MeCP2, and this current project is aimed at characterizing a novel MeCP2 phospho-isoform that was previously mapped as an in vitro target of CDKL5. In particular, she is analyzing the upstream events regulating this phosphorylation, paying particular attention to the role of CDKL5 in regulating MeCP2 phosphorylation in vivo, and the downstream effects on MeCP2 functions.
While this 2 year project is currently in the early stage, Dr. Kilstrup-Nielsen has already discovered some novel and exciting findings about CDKL5, which she will be presenting at the 3rd European Rett Syndrome conference in Maastricht in October. We look forward to her achievements as she pushes CDKL5 and MeCP2 research forward.
Please visit CDKL5.com for our most current information, upcoming events and great store items!
International Foundation for CDKL5 Research Announces Location of its Second CDKL5 Center for Excellence
The International Foundation for CDKL5 Research (IFCR) is proud to announce that the location of its second CDKL5 Center for Excellence will be at the prestigious Boston Children's Hospital in Boston, Massachusetts.
CDKL5 Centers for Excellence are the only multidisciplinary clinics for the treatment of people, a majority of whom are children, with a CDKL5 Disorder (CDKL5), which is a devastating genetic condition resulting in early-onset, difficult-to-control seizures, and severe neuro-developmental impairment.
"After an extensive search of top notch medical facilities on the East Coast for our second CDKL5 Center for Excellence location, we found that Boston Children's Hospital was the perfect pairing of medical expertise and research initiatives into this condition that so tragically affects those suffering with CDKL5" said Dr. Katheryn Elibri Frame, IFCR President and mother of an affected child. "IFCR's vision in establishing these centers is to foster physician expertise in CDKL5, and thereby establish diagnostic, therapeutic and preventative standards of care. We are proud to partner with Boston Children's Hospital in order to improve the quality of life and to find a cure for our children."
The new CDKL5 Center for Excellence will be led by Dr. Walter Kaufmann, esteemed Director of the Rett Syndrome Program at Boston Children's Hospital, and Dr. Heather Olson, with the hospital's Epilepsy Genetics program. Dr. Kaufmann leads a team of specialists with expertise in Rett Syndrome (RTT), which is a degenerative disorder that is similar to CDKL5 Disorders in its presentation and symptoms but is more common than CDKL5. RTT affects 1 in 10,000 female births, while CDKL5 affects both males and females, however the true incidence of CDKL5 is not known at this time. There are as many as 600 people worldwide to date, although the number is growing rapidly as genetic testing for this condition becomes more comprehensive and affordable.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development and function. Although little else is yet known about the protein's function, it likely plays a role in regulating the activity of other genes. One of these other genes that CDKL5 is believed to regulate includes the MECP2 gene, the alteration of which is responsible for a majority of cases of RTT, hence the reason for overlapping symptoms and similar medical needs among patients with either condition.
The CDKL5 Center For Excellence at Boston Children's Hospital will hold monthly clinics starting this fall. The comprehensive, multidisciplinary clinic provides each patient with many different specialists over the course of one afternoon. These specialties include neurology, epileptology, gastroenterology/nutrition, neuro-ophthalmology, genetics, sleep specialists, and more. Making it a truly unique experience, each of these specialists is committed to being a CDKL5 expert, relative to his or her respective specialty.
The clinic's patients are given personalized recommendations for treatment, tests, and therapies, and are then followed by a nurse coordinator throughout the year. The patient comes away from the clinic with a comprehensive treatment plan that can be instrumental in guiding his or her local educational, therapeutic and medical teams.
The CDKL5 Center for Excellence at Boston Children's Hospital is the second of its kind. The first CDKL5 Center for Excellence was announced in February of this year, and the first of its quarterly clinics concluded earlier this month. It is held in conjunction with the Rett Syndrome Clinic at Children's Hospital Colorado near Denver and is a partnership with the Rocky Mountain Rett Association. A third location in the Midwest United States will be selected by the end of 2013.
To learn more about the Rett Syndrome Clinic at Boston Children's Hospital, please visit: Rett Clinic Boston Childrens
Joint Funding with the International Rett Syndrome Foundation (IRSF)
The International Foundation for CDKL5 Research is proud to announce co-funding of a grant with the International Rett Syndrome Foundation for a joint research project that is looking closely at the interaction between CDKL5 and MeCP2. It is our sincere honor to collaborate with IRSF again, as we recognize and appreciate our many common goals and interests, and in this case, the close molecular interaction between our two disorders. We believe collaborating on projects that are relevant to our respective organizations is a fundamental example of rare diseases showing strength, unity and commitment.
Dr. Janice Ascano, IRSF Grant and Research manager: "IRSF is pleased to announce the partnership with IFCR to jointly fund a basic research award to Dr. Charlotte Kilstrup-Nielsen, who has been working on the interactions between CDKL5 and MeCP2 proteins, and her project aims to explain how MeCP2 dysfunctions cause RTT conditions while understanding how CDKL5 functions in the brain. IRSF believes this is a collaboration that has worked in the past and is excited to have the opportunity to work with IFCR again to further research for both MeCP2 and CDKL5 related disorders."
Dr. Charlotte Kilstrup-Nielsen from the University of Insubria in Italy has much experience studying CDKL5 and MeCP2, and this current project is aimed at characterizing a novel MeCP2 phospho-isoform that was previously mapped as an in vitro target of CDKL5. In particular, she is analyzing the upstream events regulating this phosphorylation, paying particular attention to the role of CDKL5 in regulating MeCP2 phosphorylation in vivo, and the downstream effects on MeCP2 functions.
While this 2 year project is currently in the early stage, Dr. Kilstrup-Nielsen has already discovered some novel and exciting findings about CDKL5, which she will be presenting at the 3rd European Rett Syndrome conference in Maastricht in October. We look forward to her achievements as she pushes CDKL5 and MeCP2 research forward.
Please visit CDKL5.com for our most current information, upcoming events and great store items!
The first CDKL5 Center of Excellence!
IFCR announces funding of the 1st
CDKL5 Center of Excellence!
IFCR has a vision of creating centers of excellence for CDKL5 where those affected by CDKL5 disorder can go for comprehensive evaluation and care. CDKL5 is so rare that little is known or understood about the best ways to manage the clinical struggles our children and families face. IFCR's vision in establishing these centers is to foster physician expertise in CDKL5, and thereby establishing diagnostic, therapeutic and preventative standards of care. These CDKL5 centers will also be centers for future clinical research studies and collaborate with the CDKL5 Natural History Study and International Database.. Plans are underway to open similar CDKL5 Centers of Excellence regionally in the United States, and eventually at sites around the world.
We are proud to partner with the Rocky Mountain Rett Association (RMRA) to create the first CDKL5 center within their existing Rett Clinic at Children's Hospital Colorado, near Denver. This clinic is headed by Dr. Tim Benke, a world renowned neurologist and neuroscientist. Together with an amazing team of 15 specialists, the Rett and CDKL5 clinic is a unique model of comprehensive care for patients.
Children's Hospital Colorado
The Rett Clinic and CDKL5 Center of Excellence is a multidisciplinary clinic that offers care by the following specialties:
To schedule an appointment and to learn more, please contact Kate Atkins at:
rettclinic@childrenscolorado.org
Children's Hospital Colorado is ranked by US News and World Reports as one of the country's best children's hospital in Neurology and Neurosurgery, Cardiology, Pulmonary, Gastroenterology and Orthopedics, to name a few. IFCR is excited and privileged to partner with them on this critical step in CDKL5 research and care for our children and adults living with this devastating disorder.
Thank you for your membership and support of IFCR, we are committed to pursuing the best opportunities for research, treatments and a cure. IFCR's inaugural step in establishing high standards for clinical care is another example of your dollars at work.
CDKL5 Center of Excellence!
IFCR has a vision of creating centers of excellence for CDKL5 where those affected by CDKL5 disorder can go for comprehensive evaluation and care. CDKL5 is so rare that little is known or understood about the best ways to manage the clinical struggles our children and families face. IFCR's vision in establishing these centers is to foster physician expertise in CDKL5, and thereby establishing diagnostic, therapeutic and preventative standards of care. These CDKL5 centers will also be centers for future clinical research studies and collaborate with the CDKL5 Natural History Study and International Database.. Plans are underway to open similar CDKL5 Centers of Excellence regionally in the United States, and eventually at sites around the world.
We are proud to partner with the Rocky Mountain Rett Association (RMRA) to create the first CDKL5 center within their existing Rett Clinic at Children's Hospital Colorado, near Denver. This clinic is headed by Dr. Tim Benke, a world renowned neurologist and neuroscientist. Together with an amazing team of 15 specialists, the Rett and CDKL5 clinic is a unique model of comprehensive care for patients.
Children's Hospital Colorado
The Rett Clinic and CDKL5 Center of Excellence is a multidisciplinary clinic that offers care by the following specialties:
- Neurology
- Physical Medicine and Rehabilitation
- Developmental pediatrics
- Pulmonary
- Cardiology
- Orthopedic surgery
- Genetics
- Gastroenterology (GI)
- Behavioral psychology
- Nutrition
- Physical therapy
- Speech therapy
- Occupational therapy
- Nursing
- Social work
To schedule an appointment and to learn more, please contact Kate Atkins at:
rettclinic@childrenscolorado.org
Children's Hospital Colorado is ranked by US News and World Reports as one of the country's best children's hospital in Neurology and Neurosurgery, Cardiology, Pulmonary, Gastroenterology and Orthopedics, to name a few. IFCR is excited and privileged to partner with them on this critical step in CDKL5 research and care for our children and adults living with this devastating disorder.
Thank you for your membership and support of IFCR, we are committed to pursuing the best opportunities for research, treatments and a cure. IFCR's inaugural step in establishing high standards for clinical care is another example of your dollars at work.
