CDKL5 Centers Of Excellence

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 neurodevelopmental impairment.


Children’s Hospital Colorado

Website

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.

Appointments:

Contact: Tristen Dinkel
Email: rettclinic@childrenscolorado.org

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.

The Rett Clinic and CDKL5 Center of Excellence is a multidisciplinary clinic that offers care by the following specialties:

  • Neurology/Epileptology
  • 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

The clinic meets quarterly, and patients are evaluated by all or most of the listed specialists according to need, in a single afternoon.

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. Take a virtual tour of their hospital. 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.


Boston Children’s Hospital

Website | CDKL5 Clinic

The International Foundation for CDKL5 Research (IFCR) is proud to announce the opening of our second CDKL5 Center for Excellence at the prestigious Boston Children’s Hospital in Boston, Massachusetts.

Appointments

Contact: Allison Robinson
Phone: 617-355-8994
Email: Allison.Robinson@childrens.harvard.edu

“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. 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.”— Dr. Katheryn Elibri Frame, IFCR President and mother of an affected child.

The new CDKL5 Center for Excellence is led by Dr. Heather Olson, a neurologist in the Department of Pediatric Neurology at Boston Children’s Hospital and faculty at Harvard Medical School. She has trained at the country’s most prestigious medical institutions such as Mayo Clinic, Harvard, and Boston Children’s Hospital, where she has earned numerous awards for her work in pediatric neurogenetic disorders and epileptic encephalopathies.

The CDKL5 Center For Excellence at Boston Children’s Hospital holds monthly clinics. The comprehensive, multidisciplinary clinic provides each patient with many different specialists over the course of one to two days. 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.


Cleveland Clinic

Website | CDKL5 Clinic

The International Foundation for CDKL5 Research (IFCR) is proud to announce the opening of the third CDKL5 Center of Excellence in Cleveland, Ohio at the Cleveland Clinic.

Appointments

Contact: Lisa Sanders
Email: sanderl@ccf.org

Contact: Dr. Parikh
Email: parikhs@ccf.org

Phone: 216-444-1994
do not press #1; stay on the line to be connected directly to the physician’s office

Dr. Parikh, who serves as Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program, has a long-standing clinical interest in CDKL5 Disorder. His expertise and research initiative into CDKL5 Disorder made the Cleveland Clinic a perfect fit when the IFCR sought a third location.
“We are very excited to announce this collaboration between the IFCR and the Cleveland Clinic Foundation. After careful consideration of nationally recognized institutions for our third CDKL5 Center of Excellence, we found that Dr. Parikh and his team are the perfect partners. Dr. Parikh’s team bring leading medical expertise, research capabilities and initiatives, and a collaborative culture to the care of those suffering with CDKL5 Disorder” said Dr. Katheryn Elibri Frame, IFCR President and mother of an affected child.
The comprehensive, multidisciplinary “clinic without walls” provides each patient with as many as 12 different specialists over the course of one to two days. Those specialists include a neurologist, cardiologist, orthopedist, nutritionist, gastroenterologist, ophthalmologist, genetic counselor, developmental pediatrician, social work, as well as rehabilitation therapists. 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 research coordinator throughout the year. The patient receives a comprehensive document from the Center for Excellence that can be instrumental in guiding his or her local medical, therapeutic and educational teams.

“We aim to continue IFCR’s goal of providing comprehensive multidisciplinary care for patients with CDKL5 Disorder,” said Dr. Parikh. “We will continue IFCR’s vision for these centers, which is to foster physician expertise in CDKL5, and thereby work to establish diagnostic, therapeutic and preventative standards of care.”

For more information on the CDKL5 Center of Excellence at The Cleveland Clinic, please visit: http://my.clevelandclinic.org/neurological_institute/pediatric-neurology/default.aspx.


St. Louis Children’s Hospital

WebsiteCDKL5 Clinic

The International Foundation for CDKL5 Research (IFCR) is proud to announce the opening of its newest CDKL5 Center of Excellence in St. Louis, MO at the St. Louis Children’s Hospital (an affiliate with Washington University School of Medicine)

Appointments

To schedule an appointment at the Washington University and St. Louis Children’s Rett Spectrum clinic, call 314.454.KIDS (5437) or 800.678.KIDS (5437)

Contact: Amy Limpert, RN – Clinic Nurse Coordinator

Ph:  314-454-6120, Fax:  314-454-2523

The Washington University and St. Louis Children’s Hospital Rett Spectrum clinic is a specialty clinic designed to care for and support children with Rett Syndrome and Rett Related Disorders. Established in January 2015, the clinic provides a coordinated medical home for children with Rett Spectrum Disorders — including CDKL5 disorder.  Patients and their families meet with multiple caregivers through the clinic, including specialists in neurology, therapy and nutrition.

The clinic’s mission is to enhance their overall quality of life, provide support and education, help affected children find their voices, empower families to act as advocates for their children, and act as a resource to access research and innovation.

As the only Rett Spectrum clinic in the region, the team currently cares for more than 50 patients.  The clinic team is also participating in research trials focused on improving lives for Rett spectrum patients and working toward developing additional Rett syndrome-related research studies.

Patients that are eligible for the clinic include:

  • Clinical Diagnosis of Rett Syndrome or Atypical Rett Syndrome
  • Confirmed genetic abnormality in MECP2 (including point mutations, deletions, and duplications)
  • Confirmed genetic abnormality in CDKL5
  • Confirmed genetic abnormality in FOXG1
  • Evaluation for any of the above

About the team

 

A highly-specialized team cares for patients and families at the Rett Spectrum clinic.  The clinic is led by Robin Ryther, MD, PhD, and co-directed by Judy Weisenberg, MD. Drs. Ryther and Weisenberg are both board certified pediatric neurologists and epileptologists.

Dr. Ryther attended medical school and received her PhD at Vanderbilt University School of Medicine.  She trained in pediatrics and pediatric neurology at Massachusetts General Hospital and epilepsy at Washington University School of Medicine.  Dr. Weisenberg attended medical school and pediatric residency at the University of Minnesota.  She trained in pediatric neurology and epilepsy at the Washington University School of Medicine.

Patients are evaluated by the clinic’s core team which includes specialists from neurology/epileptology, physical therapy, occupational therapy, augmentative communication and nutrition.  Orthotists and equipment vendors are available for consultation.  For many patients, appointments with additional pediatric specialists may also include:

  • Pulmonary
  • Cardiology
  • Orthopedic surgery
  • Genetics
  • Gastroenterology (GI)
  • Otolaryngology (ENT)
  • Psychiatry
  • Endocrinology
  • Gynecology

About St. Louis Children’s Hospital and Washington University School of Medicine

St. Louis Children’s Hospital has provided specialized care for children for more than 130 years. U.S. News & World Report ranks St. Louis Children’s among the best pediatric hospitals in the nation.  In 2015 the hospital again received the Magnet designation from the American Nurses Credentialing Center, the nation’s highest honor for nursing excellence.  St. Louis Children’s Hospital is affiliated with Washington University School of Medicine, one of the leading medical research, teaching and patient care institutions in the nation. The hospital is a member of BJC HealthCare. For more information, visit StLouisChildrens.org, or find us on Facebook and @STLChildrens on Twitter.

Washington University School of Medicine‘s 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.