Introduction to Clinical
Trials/Studies
To have your child evaluated at a Rett Syndrome center please contact the following:
Dr. Sarojini Budden MD, FRCPC
Director Rett Syndrome Clinic
Child Development and Rehabilitation Center
Oregon Health and Sciences University
P.O. Box 574
Portland, OR 97207
Contact: Sandra Mason 503-494-8086
Dr. Sarojini Budden MD, FRCPC
Medical Director
Pediatric Development Program/ NICU Follow Up Clinic
Legacy Emanuel Children's Hospital
2801. N. Gantenbein
Portland, OR 27227
Contact: Lisa Shorett 503-413-4623
Dr. Daniel Glaze
The Blue Bird Circle Rett Center
Baylor College of Medicine
6621 Fannin, CC 1250
Houston, TX 77030
1-888-430-RETT (7388) or 713-798-RETT (7388)
Contact: Judy Barrish
JOBarris@TexasChildrensHospital.org
Omar Khwaja, M.D., Ph.D. Director
The Rett Syndrome Program
Children's Hospital Boston/Harvard Medical School
Fegan 11
300 Longwood Avenue
Boston, MA 02115
Contact: Kristin Feltz, Program Administrator
617.355.8994
Dr. Sakkubai Naidu
Kennedy Krieger Institute
Department of Neurogenetics
800-873-3377 or 410-550-5409
Dr. Alan Percy
University of Alabama at Birmingham
Sparks Clinics Rett Center
Contact Jan Reeves 205- 934-1055 or 800-822-4272
Dr. Renee Wachtel
Children's Hospital and Research Center in Oakland (CA)
Katie's Clinic for Rett Syndrome
Contact Cathy Quides, RN, MS
510-428-3351 Ext. 2673
ALBERT EINSTEIN, BRONX, NY
Autonomic Dysfunction and Seizures in Rett Syndrome
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.
If you wish to participate and your child is 12 years of age and under please call Dr. Moshé at 718-405-8140 for an appointment to assess the child for inclusion in the study.
Children 13 years of age and older will be evaluated by Dr. Alex Boro. He can be contacted at 718-920-5370.
KENNEDY KRIEGER INSTITUTE
Olfactory Receptor Neurons (ORN's) As A Model of Rett Syndrome
Dr. SakkuBai Naidu, of the Kennedy Krieger Institute, is conducting a research study to understand why the nerve cells (neurons) in the brain of Rett syndrome patients are small and do not appear to grow properly. The study also aims to determine its relationship to abnormalities in the MeCP2 gene. One accessible area for neurons are those involved with smell (olfactory receptor neurons-ORNs) located high up in the nasal cavity. ORNs have a unique attribute of being able to regenerate throughout life making them a good model for neuronal development.
The study will include 30 mutation positive Rett Syndrome patients aged 18 years and older. At no cost to the patient, a 3-day in-patient admission to the General Clinical Research Center (GCRC) of the Johns Hopkins Hospital is required. Nasal biopsies will be performed by an experienced ENT specialist. The ORN's of the Rett Syndrome patients will be compared to 30 age-matched controls.
If you would like more information about this research study, please contact the Kennedy Krieger Institute, Neurogenetics Department, Genila Bibat, MD, Research Associate (bibat@kennedykrieger.org) or Barbara Ann Bradford, Clinical Coordinator (bradford@kennedykrieger.org) at 443-923-2778 or 1-800-873-3377 (32778).
Dextromethorphan in Rett Syndrome
Dr. SakkuBai Naidu, of the Kennedy Krieger Institute, is initiating a clinical drug trial using dextromethorphan (DM) in Rett Syndrome (RS), at the Pediatric Clinical Research Unit (PCRU) of the Johns Hopkins Hospital. 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 RS patients. This chemical and its receptors, when in excess, cause harmful over-stimulation of the nerve cells (neurons) in the brain, contributing in part to the seizures, behavioral problems, gastrointestinal (GI) and respiratory abnormalities, motor, and learning disabilities in RS. We propose to initiate a specific treatment to counter/block the effects of this brain chemical and its excessive receptors using DM because of its identified ability to block NMDA receptors. This drug 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.
This clinical trial, which is a dose-dependent study, will determine the benefits of various doses of DM on EEG, seizures, cognition, behavior, respiratory irregularities, GI dysfunction, bone density, and motor impairment. The study will be limited to MeCP2 mutation-positive children, 15 years of age and younger, but will be initiated in those who are between 5-15 years of age to establish safety-before including those less than 5 years of age.
There is no financial compensation for participating in this research study. If you would like more information regarding risks, benefits, and other details, please contact the Kennedy Krieger Institute, Department of Neurogenetics, Genila Bibat, MD, Research Associate (bibat@kennedykrieger.org) or BarbaraAnn Bradford, Clinical Coordinator (bradford@kennedykrieger.org), phone #443-923-2778 or 1-800-873-3377.
BLUEBIRD CIRCLE RETT CENTER
The Natural History of Osteopenia in Rett Syndrome
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.
Biliary Tract Disease in Rett Syndrome
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.
