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Welcome to the Center for Rare Neurological Diseases Most individuals with a rare disease have never met a specialist in their disorder, and care is inconsistent. Quality of life is often extremely poor, and over 1/3 of deaths in early childhood are due to a rare disease. At the Center for Rare Neurological Diseases, we aim to target this disparity by combining unusual resources with dedication to providing comprehensive care. We partner with academia, industry, and specialist physicians to provide a combination of three components critical for providing hope to individuals with rare diseases: 1. Specialized clinical care for rare diseases, with access to experts in neurology and neurogenetics
2. Access to investigational drugs and devices through industry-sponsored research
3. Novel clinical research driven by the needs of patients and caregivers
Our clinical expertise includes: • Rett syndrome and MECP2 related disorders, including CDKL5, FOXG1, MECP2 Duplication syndrome
• Autism and Autism Spectrum Disorders
• Pitt-Hopkins syndrome
• 22q11.2 deletion syndrome
• Intractable epilepsy due to genetic and non-genetic causes
• Coordination and planning for epilepsy surgery
• Focal cortical dysplasia and other disorders of cortical development
• Fragile X syndrome
Our current industry sponsored research targets the following disorders: • Rett syndrome
• CDKL5 syndrome
• Lennox-Gastaut syndrome
• Epileptic encephalopathy associated with Continuous Spikes and Waves during Slow-wave Sleep
Our novel investigator-initiated clinical research studies include: • Development of better rating scales and outcome measures for rare diseases, improving the likelihood that effective interventions will successfully transition to FDA-approved treatments
• Testing of biomarkers that are associated with clinically meaningful changes in studies of new therapeutics
• Testing and use of novel, wearable technology designed to measure changes in physiologic function relevant to rare disease research and therapeutic mangagement
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 Dr. Tarquinio, is a child neurologist and epileptologist. He is currently the principal investigator for a clinical trial investigating the use of triheptanoin in Rett syndrome NCT02696044, and the lead investigator on a multi-site study designed to improve outcome measures and biomarkers for Rett syndrome clinical trials.Dr. Tarquinio began caring for children and adults with Rett syndrome in 2007 under the mentorship of Dr. Alan Percy, and has worked with Dr. Percy on the Rett syndrome Natural History Project ever since. He is well known for his development of Rett-specific Growth Charts, numerous publications from the Rett syndrome Natural History Study, his time working on the IGF-1 clinical trial and at the Boston Children's Rett Clinic and his specialization in how epilepsy affects individuals with neurodevelopmental conditions. His research interests include the treatment of epilepsy in Rett syndrome, validation and refinement of outcome measures for clinical research, and identification of neurophysiological predictors of outcome. He currently sees primarily Rett syndrome patients, but all with neurodevelopmental disabilities are welcome in the clinic. At the clinic he merges a number of disciplines, offering services such as nutrition, physical therapy, and augmentative communication. http://www.fox5atlanta.com/health/fox-medical-team/139296199-story http://www.fox5atlanta.com/health/fox-medical-team/36216068-story Additionally, Dr. Tarquinio has managed a number of epilepsy surgery procedures over the years. Dr Tarquinio trained at Miami Children's Hospital, one of the leading centers for epilepsy surgery, and he is interested in improving outcome in intractable epilepsy, through refining epilepsy surgery. He has helped a number of children achieve seizure freedom through both traditional and minimally invasive epilepsy surgery. Anyone interested in discussing alternative treatments for epilepsy is welcome to the clinic as well." For more information about Dr. Tarquinio's work, see these resources: |
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