Rare Disease CRC for New Therapeutics and New Diagnostics
Project Description:
1. Synopsis:
Brief Summary: The purpose of this natural history study is to establish a phenotype-genotype correlation over a broad spectrum of Rhett syndrome (RS) phenotypes including the longitudinal pattern of progression of clinical features, quality of life and longevity across this cohort.
Detailed Description: At the present time, effective treatment for RS is lacking. However, recent advances in our understanding of RS suggest that the potential for effective therapies is a realistic future consideration. In order to be prepared for the implementation of clinical treatment trials, it is important to develop accurate informatin on the longitudinal (natural history) pattern of progression among individuals with RS. As such, the purpose of this study is to gather detailed historical and physical examiniation data on a large cohort of females with RS. In the process, information on survival and quality of life will be gathered. These date will be essential for the proper conduct of future clinical trials.
Comparisions: Individuals withe the clnical diagnosis of Rhett syndrome (classic or variant forms) with or without mutations in MECP2 will be compared with regard to their pheontypic characteristics. Additionally, individuals without clinical Rhett syndrome but with MECP2 mutations will be studies.
Keyword(s):
Rhett Syndrome, Natural history, MECPZ phenotype-genotype corelations
Core Function(s):
Performing Research or Evaluation
Area of Emphasis
Quality Assurance, Health-Related Activities, Quality of Life, Other - Leadership
Target Audience:
Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN, General Public
Unserved or Under-served Populations:
Racial or Ethnic Minorities, Disadvantaged Circumstances, Limited English
Primary Target Audience Geographic Descriptor:
National, International
COVID-19 Related Data:
N/A
