This is a competitive renewal application from an inter-institutional group of investigators with long-standing interest in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) to continue a Rare Diseases Clinical Research Center (RDCRC) within the Rare Diseases Clinical Research Network (RDCRN). The Center will focus on these three disorders based on the expectation that the near-term potential for meaningful therapy is strong.
The specific aims for PWS are 1) to conduct longitudinal studies according to genotype, 2) to perform natural history studies on non-PWS individuals with early-onset morbid obesity (EMO) and compare them with PWS, and 3) to develop parameters and tool for clinical trials. A pilot project spanning the three disorders will examine the characteristics and patterns of sleep disorders, well-known accompaniments of each (funded by IRSF).The PWS sites will be at the University of Florida, University of Kansas, UC Irvine, and Vanderbilt University. The PWS RDCRC will utilize GCRCs in Gainesville, Irvine, Kansas City, and Nashville. The Center is expected to function synergistically with the Intellectual and Developmental Disability Centers-IDDRC (formerly the MRRC) at UAB, Kansas, and Vanderbilt. An extensive training program is proposed for stimulating the entry of new investigators into clinical research on rare diseases (funded by IRSF and PWSA). The Center will have active affiliation with and support from the Prader-Willi Syndrome Association (PWSA). A website for this RDCRC is available at www.circ.uab.edu. This site will be amplified to include a wide range of information for AS, RTT, and PWS.
Effective treatment of Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) requires understanding their natural history through longitudinal assessments. We believe more strongly than in the initial proposal that near-term potential for therapy in these disorders is promising. Thus, understanding their common clinical issues disorders (such as nutrition, seizures, sleep and behavior) and the most effective interventions for them are highly relevant.
|Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2017) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19:13-19|
|Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan et al. (2017) Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol 75:91-95|
|Killian, John T; Lane, Jane B; Lee, Hye-Seung et al. (2017) Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors. Pediatr Neurol 70:20-25|
|Tarquinio, Daniel C; Hou, Wei; Berg, Anne et al. (2017) Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain 140:306-318|
|Tan, Wen-Hann; Bird, Lynne M; Sadhwani, Anjali et al. (2017) A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A :|
|Lane, Jane B; Salter, Amber R; Jones, Nancy E et al. (2017) Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord 47:1102-1112|
|Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66|
|Percy, Alan K (2016) Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-32|
|Shivers, Carolyn M; Leonczyk, Caroline L; Dykens, Elisabeth M (2016) Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome. J Autism Dev Disord 46:2126-37|
|Killian Jr, John T; Lane, Jane B; Lee, Hye-Seung et al. (2016) Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol 58:67-74|
Showing the most recent 10 out of 68 publications