Research Studies in Progress
For information about current studies being conducted in Rett syndrome and your daughter's eligibility to participate in these studies, please contact Judy Barrish, study coordinator, Blue Bird Circle Rett Center, Texas Children’s Hospital, Houston, Texas, 832-822-7388, toll-free at 1-888-430-7388, or e-mail Nurse Barrish at email@example.com.
The Blue Bird Circle Rett Center is part of a Rett Consortium with Dr. Alan Percy at the University of Alabama at Birmingham and Dr. Carolyn Schanen at the Alfred I. duPont Hospital for Children in Wilmington Delaware, in addition to the Baylor College of Medicine team. The RTT consortium is supported by the International Rett Syndrome Foundation.
This consortium allows the investigators access to data from a large population of classical and atypical cases of RTT. The ability to share this volume of information through the database, to reference particular questions and to determine the most effective treatment will provide a higher quality of life for these children/adults.
NNZ-2566 Clinical Trial
Do you have a child with Rett syndrome? If so, your child may be eligible to participate in a research study at Texas Children's Hospital.
Would the study be a good fit for your child?
- Yes if your child has a diagnosis of Rett Syndrome
- Yes if your child is a female between 16-40 years old
- Yes if your child is able to swallow a liquid or have a gastrostomy tube
What will happen if your child takes part in this research study?
Your child will:
- Stay at Texas Children's Hospital for 6 days with 22 days follow up
- Be given medication or a placebo (fake medication)
- Have blood and laboratory sampling
- Have brain activity monitored
- Have heart activity monitored
- Have Rett Syndrome symptoms monitored
Participation comes at no cost to the family. Research is always voluntary!
FOR MORE INFORMATION EMAIL:
Aryn Knight, BS, CCRP, Pediatric Neurology, Project Manager, email: firstname.lastname@example.org
Amber Pearce, Pediatric Neurology, Research Coordinator, email: email@example.com
This study is sponsored by Neuren Pharmaceuticals Ltd.
Rett Syndrome Natural History Clinical Study
This project will provide useful information to physicians and families concerning RTT and other rare diseases. For this project, the BCM team travels to four different cities to enroll individuals into the clinical study. Those cities are Oakland, Calif.; New Brunswick, N.J.; Miami or Tampa, Fla.; and Chicago, Ill. Patients are also seen at Texas Children's in Houston, and, if interested and qualified, are enrolled into the study.
This study involves the completion of questionnaires concerning the clinical features of RTT. These questionnaires have been developed during previous clinical studies and include information such as development, walking abilities, hand use, breathing pattern, growth, seizures, and other features typically observed in individuals with RTT. We will establish a clinical database of 1,000 or more individuals with RTT including MECP2 mutation status for the purpose of describing the relationship of the mutation in the MeCP2 gene to the clinical characteristics of the child or adult (phenotype-genotype correlations). We will compare the type of mutation in the MeCP2 gene and the clinical features of the child/adult with RTT. This will allow us to determine if specific mutations (genotype) are associated with more or less severe clinical features (phenotype). Participants will be enrolled from the study site visit areas at BCM in association with Texas Children's; the University of Alabama at Birmingham; Greenwood Genetics Center at Columbia, S.C.; and the Children's Hospital in Boston, Mass.
Biliary Tract Disease in Rett Syndrome
Drs. Kathleen J. Motil and Daniel G. Glaze are conducting a study to characterize the pattern of biliary tract disease in children and adults with RTT and to identify factors that predispose these individuals to cholecystitis, cholelithiasis, and biliary dyskinesia. Parents of children/adults affected with RTT who have been evaluated for biliary tract disease are invited to complete a survey related to their daughter’s illness. With parental permission, their daughter's medical record will be reviewed for symptoms, physical findings, results of diagnostic studies, and medical and surgical outcomes associated with biliary tract disease. We anticipate that the information obtained from this study will promote awareness about biliary tract disease in RTT, and ultimately, benefit the health and well-being of the children and adults affected with this disorder.