Genetic and Physical Characteristics of Rett Syndrome
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral features, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome|
- Genetic and Physical Characteristics of Rett Syndrome [ Time Frame: July 31, 2014 ] [ Designated as safety issue: No ]The primary endpoint is to determine the variables related to clinical outcome in terms of genotype and phenotype. The variables include growth, head circumference, stereotypic movements, periodic breathing, epilepsy, scoliosis, and longevity. Summative data are provided by the Clinical Severity Scale (CSS) and the Motor Behavioral Assessment (MBA).
- Genetic and Physical Characteristics of Rett syndrome [ Time Frame: Through July 31, 2014 ] [ Designated as safety issue: No ]The principal secondary outcome measures include quality of life assessments of the participants (CHQ) and the principal caregiver (SF-36).
- Genetic and Physical Characteristics of Rett Syndrome [ Time Frame: July 31, 2014 ] [ Designated as safety issue: No ]No other pre-specified outcome measures are planned
|Study Start Date:||March 2006|
|Estimated Study Completion Date:||July 2014|
|Estimated Primary Completion Date:||July 2014 (Final data collection date for primary outcome measure)|
RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement and communication skills, including speech and social interaction. The first signs of RTT include loss of acquired speech and loss of purposeful hand use for activities such as eating or playing. Individuals may also develop abnormal walking, repetitive hand movements, such as clapping or wringing, and abnormal breathing while awake.
Effective treatments for RTT are currently lacking. There is also inadequate information about the link between RTT clinical features and its genetic basis. In order to prepare for future clinical trials that may lead to effective therapies, it is important to collect accurate information about the characteristics of RTT and the pattern of disease progression. This study will gather historical and physical examination data to establish phenotype-genotype correlations. Data on survival and quality of life in females with RTT and males with MECP2 gene mutations will also be evaluated.
Participants in this observational study will be recruited from the four sites at which the study is being conducted, as well as through the Rare Disease Clinical Research Network and the International Rett Syndrome Association (IRSA). Prior to study entry, potential participants are expected to be tested for a mutation in the MECP2 gene. No treatment will be administered at any time during this study. Study visits will occur every 6 months until the child is 6 years old and once a year thereafter. At each study visit, participants will be examined to assess physical characteristics of the disorder, such as motor behavior and disease severity. Additionally, participants will complete questionnaires about medical history, contact information, and quality of life. The first visit will last approximately 1.5 hours, and every subsequent visit will last approximately 1 hour.
|Contact: Alan K Percy, MDfirstname.lastname@example.org|
|Contact: Jane B Lane, RN, BSNemail@example.com|
|United States, Alabama|
|University of Alabama at Birmingham||Recruiting|
|Birmingham, Alabama, United States, 35294|
|Contact: Jane Lane, RN, BSN 205-934-1130 firstname.lastname@example.org|
|Principal Investigator: Alan Percy, MD|
|United States, Massachusetts|
|Children's Hospital Boston||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Katherine Barnes, BSc 617-355-8994 Katherine.Barnes@childrens.harvard.org|
|Principal Investigator: Walter Kaufmann, MD|
|United States, South Carolina|
|Greenwood Genetic Center||Recruiting|
|Greenwood, South Carolina, United States, 29646|
|Contact: Fran Annese, LMSW 888-442-4363 email@example.com|
|Principal Investigator: Mike Friez, PhD|
|Principal Investigator: Steve Skinner, MD|
|United States, Texas|
|Baylor College of Medicine||Recruiting|
|Houston, Texas, United States, 77030|
|Contact: Judy Barrish, RN, BSN 832-822-1781 firstname.lastname@example.org|
|Principal Investigator: Daniel Glaze, MD|
|Sub-Investigator: Jeffrey L Neul, MD, PhD|
|Principal Investigator:||Alan K Percy, MD||University of Alabama at Birmingham|