|
|
| Clinics, Trials & Studies |
|
|
|
|
USA ALABAMA Dr. Alan Percy Director, Rett Clinic and Research Center UAB - Civitan International Research Center 1530 - 3rd Avenue South CIRC 320 Birmingham, Alabama 35294-0021 Contact: Jerry Childers 800-822-2472, ext 7 CALIFORNIA Dr. Mary Jones Director, Katie's Clinic for Rett Syndrome Developmental and Behavioral Pediatrics Children's Hospital and Research Center in Oakland (CA) 5220 Claremont Ave Oakland, CA 94618 Contact: Erica Robertson, Clinic Coordinator 510-428-3885 Ext 2302 Kathryn Smith, RN, DrPH Rett Clinic USC University Center of Excellence in Developmental Disabilities Children's Hospital Los Angeles 4650 Sunset Blvd., MS#53 Los Angeles, CA 90027 Contact Kathy Smith: 323-361-8301 For appointments call: 323-361-3849 COLORADO Dr. Tim Benke Director, Rett Syndrome Clinic Depts. of Pediatrics, Neurology and Pharmacology University of Colorado School of Medicine/Colorado Children’s Hospital 12800 East 19th Ave Aurora, CO 80045 Contact: Kate Atkin, RN, clinic coordinator This e-mail address is being protected from spam bots, you need JavaScript enabled to view it This e-mail address is being protected from spam bots, you need JavaScript enabled to view it 720-777-4363 DELAWARE Dr. Carolyn Schanen Director, Center for Applied Clinical Genomics Nemours Alfred I duPont Hospital for Children 1600 Rockland Road Wilmington, DE 19803 1-302-651-6804 Contact: Kathy Sewell This e-mail address is being protected from spam bots, you need JavaScript enabled to view it MARYLAND Dr. Sakkubai Naidu Director, Rett Syndrome Research Project Department of Neurogenetics Kennedy Krieger Institute, John’s Hopkins School of Medicine 707 North Broadway Baltimore, MD 21205 800-873-3377 ext. 2778 or 443-923-2778 MASSACHUSETTS Dr. Walter Kaufmann Director, Rett Syndrome Program Children's Hospital Boston/Harvard Medical School Fegan 11 300 Longwood Avenue Boston, MA 02115 Contact: Molly Valle, Program Administrator 617-355-8994 MINNESOTA Dr. Raymond Tervo (pediatric services) Dr. Art Beisang (pediatric services) Dr. Robert Wagner (adult services) Rett Syndrome Services Gillette Children’s Specialty Healthcare 200 E. University Ave. St. Paul, MN 55101 Contact: Jason Kelecic 651-312-3176 or 800-709-4040 Resource Nurse La’tosia Erickson 651-229-3897  Gillette Children’s Specialty Healthcare 130.54 KbNEW YORK Dr. Aleksandra Djukic DDirector, Tri-State Rett Syndrome Center Albert Einstein College of Medicine Montefiore Medical Center Children’s Hospital at Montefiore (CHAM) 3415 Bainbridge Ave, 4th Floor Bronx, NY 10467 Jennifer Lopez, Clinic Coordinator Phone: 347.640.2671 or 718.920.4378 This e-mail address is being protected from spam bots, you need JavaScript enabled to view it OREGON Dr. Mario Petersen Director Rett Syndrome Clinic Child Development and Rehabilitation Center Oregon Health and Sciences University P.O. Box 574 Portland, OR 97207 Contact: 800-452-3563 or 503-494-8095 Dr. Janice Cockrell Director Rett Syndrome Clinic The Children's Hospital at Legacy Emanuel 2801 N Gantenbein, Suite 2225 Portland, OR 97227 Phone: 503-413-2948 Fax: 503-413-4719 Contact: Kristin Mason TEXAS Dr. Daniel Glaze Medical Director The Blue Bird Circle Rett Center Baylor College of Medicine 6621 Fannin, CC 1250 Houston, TX 77030 1-888-430-RETT (7388) or 832.822.7388 Contact: Judy Barrish This e-mail address is being protected from spam bots, you need JavaScript enabled to view it Melissa Ramocki, M.D., Ph.D. (MECP2 Duplication Syndrome Clinic) Baylor College of Medicine and Texas Children's Hospital 6701 Fannin St. Suite 1250 Houston, Texas 77030 ph: 832.822.5046 Canada South Western Ontario Rett Syndrome Clinic, Canada Dr. Victoria Siu, Medical Lead Dorothy Harris, Nurse Clinician Rett Syndrome Clinic Thames Valley Children's Centre 779 Base Line Road East London, Ontario N6C 5Y6 Canada Primary Contact: Dorothy Harris 519 685 8700 Ext. 53406 This e-mail address is being protected from spam bots, you need JavaScript enabled to view it Please be aware that this clinic can only accept referrals for children (not adults) from within the catchment area of Southwestern Ontario. Children’s Hospital of Eastern Ontario Rett Syndrome Clinic Dr Peter Humphreys Director, CHEO Rett Syndrome Clinic Division of Neurology, Clinic C9 Children’s Hospital of Eastern Ontario 401 Smyth Road Ottawa, ON, K1H8L1 Contact: Renee Brannan, Nurse Coordinator Rett Syndrome Clinic Tel. 613-737-7600, ext 2159 Current Studies Current Studies Seeking Patient Enrollment A Safety Study of NNZ-2566 in Patients With Rett Syndrome Location: Baylor College of Medicine Collaborators: Neuren, Texas Children's Hospital, International Rett Syndrome Foundation Summary: Rett Syndrome is a developmental disorder primarily if not exclusively affecting females. The disorder is characterized by apparent normal development in early infancy (6-18 months), followed by a period of regression with onset of systemic and neurological signs. The CNS symptoms of Rett Syndrome include learning disability, autism and epilepsy and these can be severe and highly debilitating. Affected individuals also show signs of autonomic dysfunction, reflected in cardiovascular and respiratory abnormalities. There is no currently effective treatment for Rett Syndrome. This study will investigate the safety and tolerability of treatment with oral administration of NNZ-2566 at 35 mg/kg or 70 mg/kg BID in adolescent or adult females with Rett Syndrome. The study also will also investigate measures of efficacy during treatment. Eligibility: Ages Eligible for Study: 16 Years to 40 Years Genders Eligible for Study: Female Criteria: Inclusion Criteria:
Exclusion Criteria:
Contact Information: Baylor College of Medicine Coordinator: Amber Pearce Email: This e-mail address is being protected from spam bots, you need JavaScript enabled to view it Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection) Location: Children's Hospital Boston Collaborators: International Rett Syndrome Foundation, Autism Speaks Letter from Dr. Scott Pomeroy 378.33 KbSummary: The investigators are recruiting children for a research study using a medication known as IGF-1 (mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT). To participate in the study your child must be female, between the ages of 2 to 12 and have a genetic diagnosis (MECP2 deletion or mutation) of Rett Syndrome. As you may know, there is no treatment for this illness. Currently, the standard management of Rett syndrome is supportive, which means attempting to prevent complications and treatment of symptoms. This study involves testing an investigational drug, which means that even though IGF-1 is approved by the Food and Drug Administration (FDA) for use in children, it has not been used before to treat Rett syndrome specifically. Information from this research will help determine whether the drug should be approved by the FDA in the future for the treatment of Rett Syndrome. There are three goals to this study:
Boston Children's Hospital Rett Center Coordinator: Kate Barnes, BSc Email: This e-mail address is being protected from spam bots, you need JavaScript enabled to view it Ph: 617-355-5230 Placebo-controlled trial of Dextromethorphan in Rett Syndrome Location: Kennedy Krieger Institute, John’s Hopkins School of Medicine, Baltimore, MD Dr. Sakkubai Naidu, Principal Investigator, is initiating a double blinded placebo controlled clinical drug trial using dextromethorphan (DM) in Rett Syndrome (RTT), at the Pediatric Clinical Research Unit (PCRU) of the Johns Hopkins Hospital/Kennedy Krieger Institute, that is sponsored by the FDA and Johns Hopkins Institute for Clinical and Translational Research (ICTR). It has been shown that receptors for a certain brain chemical called glutamate, in particular the NMDA type, are increased in the brain of young RTT patients (<10 years of age). This chemical and its receptors, when in excess, cause harmful over-stimulation of nerve cells in the brain, contributing in part to the seizures, behavioral problems, and learning disabilities in RTT. We propose to initiate a specific treatment using DM to counter/block the effects of this brain chemical and its excessive receptors because of DM’s identified ability to block NMDA receptors. DM is available for human consumption. Infants and children with respiratory infections and cough, as well as non-ketotic hyperglycinemia, are treated with DM, which has been well tolerated. The study will last for 3 months and will be limited to MECP2 mutation-positive children, 2 years – 9.99 years of age. This clinical trial, which is a placebo-controlled study, will randomize patients to the drug or placebo to determine the benefits of DM vs placebo on cognition, behavior, or seizures if present. Your child will stay twice in the Pediatric Clinical Research Unit (PCRU) at Johns Hopkins ICTR, for 3 days during each admission. The first hospital stay will be for 3 days, before she starts the DM or placebo. The follow-up 3-day hospital stay will be 3 months after she starts taking DM or placebo. There will also be two interim follow up evaluations at 2 weeks and 1 month after she starts taking the DM or placebo consisting of a neurological evaluation, EKG, and blood work, which can take place at your local doctor’s office or at Johns Hopkins, and will be paid for by this study. Our research nurse or research associate will contact you at least weekly during the first month, and at least monthly thereafter until the end of the 3-month study. There is no financial compensation for participating in this research study. How to Participate: If you would like more information regarding the study’s Procedures, Risks, Benefits, or other details, please contact our study coordinator, Barbara Ann Bradford, in the Neurogenetics Unit at the Kennedy Krieger Institute ( This e-mail address is being protected from spam bots, you need JavaScript enabled to view it ) or at phone # 443-923-2778 or # 1-800-873-3377. Rett Syndrome Natural History Study Location: Various (see list below) Status: Recruiting Summary: The purpose of this natural history study is to establish a phenotype-genotype correlation over a broad spectrum of Rett syndrome phenotypes including the longitudinal pattern of progression of clinical features, quality of life, and longevity across this cohort. Target Enrollment: Individuals fulfilling consensus clinical criteria for Classic or Variant Rett Syndrome or individuals with MECP2 mutations who do not meet the clinical criteria. All ages will be eligible. Patients must be able to travel to study sites for annual evaluations (for those 6 years or older) or bi-annual evaluation (for those through age 5). The data collection sites include:
2013 Site Visit Schedule 372.22 KbHow to Participate: In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation. Should I Participate in the Rett Natural History Study 272.70 KbNatural History Study Video
Pubs JCN North American Database (82.11 kB) JCN Ret Research Update (1.07 MB) Pubs NeulNeuro Revise Final (175.68 kB) Ann Neurol 2010 Lessons on Criteria 91.85 Kb Ann Neurol 2010 Updated Criteria 161.24 Kb Glaze seizure paper Neurology 2010 481.25 Kb J Peds 2009 Kirby et al Rett longevity 241.84 Kb JB Lane QOL paper Neurology 306.47 Kb JCN North American Database 81.47 Kb Motil JPGNVitamin D deficiency 97.66 Kb Motil 143.68 Kb Profiling Scoliosis in Rett Syndrome 2010 Ped Res 204.12 Kb Autonomic Dysfunction and Seizures in Rett Syndrome Location: Albert Einstein College of Medicine, Bronx NY Dr. Solomon Moshé, Vice-Chairman of the Department of Neurology at the Albert Einstein College of Medicine in NYC, is interested in studying the relationship of autonomic dysfunction and seizures in children with Rett Syndrome. Rett Syndrome results in abnormal regulation of vital functions such as breathing, heart rate and blood pressure. RTT is also often associated with seizures and epilepsy. Even in the absence of RTT, seizures can impact on the control of vital functions. Vital functions are regulated automatically by specialized circuits and brain regions in the nervous system known collectively as the autonomic nervous system. Seizures can disrupt normal function in the autonomic nervous system. In fact, sudden unexpected death in epileptic patients (SUDEP) is strongly suspected to result from seizure induced disruption of vital functions by disrupting activity of the autonomic nervous system. Dr. Moshé suspects that the underlying abnormality of autonomic function associated with RTT results in an increased susceptibility to seizure-induced disruptions of vital functions, and increased risk of death or impairment in children with RTT. Children with Rett Syndrome (positive MECP2 testing is not necessary) who have seizures or suspected seizures will be studied in the epilepsy monitoring unit of Montefiore Children's Hospital in the Bronx, NY. The usual set of scalp electrodes used in video-EEG monitoring are applied. In addition, patients will wear a vest with respiration sensors woven into it, additional EKG leads and a pulse oxymeter. How to Participate: If your child is 12 years of age contact Dr. Moshé: 718-405-8140 for an appointment to assess the child for inclusion in the study. If your child is 13 years of age or older contact Dr. Alex Boro: 718-920-5370. The Natural History of Osteopenia in Rett Syndrome Location: The Bluebird Circle Rett Center, Texas Children's Hospital and Baylor College of Medicine, Houston, TX Drs. Kathleen J. Motil and Daniel Glaze from The Bluebird Circle Rett Center, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, are conducting a study to characterize the development of osteopenia (bone mineral loss) in girls and women with Rett syndrome and determine if associations between bone demineralization and dietary, hormonal, physical, or inflammatory factors are present in these individuals. We are requesting permission from the parents or guardians of our Rett girls and women, 1 to 40 years of age, to allow their daughters to undergo bone density measurements, using the duel-energy absorptiometry (DXA) technique; bone age x-ray measurements; growth measurements; blood and urine collections to assess nutritional, hormonal, and inflammatory factors; 3-day food consumption records; and a review of their medical history as it relates to ambulation, bone fractures, and medication use. We hope that the information obtained from this research study will advance our understanding about osteopenia and bone fractures in Rett Syndrome, and ultimately, will lead to the development of treatment strategies for girls and women affected with this disorder. How to Participate: If you would like to find out if your child is eligible for participation in this study please contact Judy Barrish, R.N. Toll-free: 1-888-430-7388 or Direct: 832-822-1781. Biliary Tract Disease in Rett Syndrome Location: The Bluebird Circle Rett Center, Texas Children's Hospital and Baylor College of Medicine, Houston, TX Drs. Kathleen J. Motil and Daniel Glaze from The Bluebird Circle Rett Center, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, are conducting a study to characterize the pattern of biliary tract disease in girls and women with Rett Syndrome and to identify factors that may predispose these individuals to cholecystitis, gallstones, and biliary dyskinesia. We are requesting permission from the parents or guardians of our Rett girls and women who have been affected with biliary tract disease to review their daughter's medical records for symptoms, physical findings, results of diagnostic studies, and surgical outcomes associated with gall bladder disease. We hope that the information obtained from this research study will advance community understanding and promote awareness about biliary tract disease in Rett Syndrome, and ultimately, will benefit the health and well-being of the girls and women affected with this disorder. How to Participate: If you would like to find out if your child is eligible for participation in this study please contact Judy Barrish, R.N. Toll-free: 1-888-430-7388 or Direct: 832-822-1781. Testing & Diagnosis Criteria
|
|
|
| Login & Registration |
|---|
|
|