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 AS are 1) to conduct longitudinal assessments on individuals with AS according to genotype and 2) establish genotype-phenotype correlations based on molecular defect type. An exploratory aim is to examine the efficacy of existing therapies including developmental interventions with respect to the genotype-phenotype. Recent results from studies in animal models provide a basis for clinical trials in the next 5 years. The AS RDCRC sites will be located at Rady Children's Hospital San Diego, Baylor College of Medicine, Children's Hospital Boston, Greenwood Genetic Center, and Vanderbilt University;sites at Boston, Houston, and Nashville will utilize GCRCs. The Center is expected to function synergistically with the Intellectual and Developmental Disability Center-IDDRC (formerly the MRRC) at UAB, Baylor, Children's Hospital Boston, and Vanderbilt. An extensive training program is proposed for stimulating the entry of new investigators into clinical research on rare diseases (funded by 1RSF and PWSA). The Center will have active affiliation with and receive support from the Angelman Syndrome Foundation (ASF). 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.
|Percy, Alan K (2016) Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr 166:325-32|
|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|
|Sajan, Samin A; Jhangiani, Shalini N; Muzny, Donna M et al. (2016) Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med :|
|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|
|Ward, Christopher S; Huang, Teng-Wei; Herrera, JosÃ© A et al. (2016) Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. PLoS One 11:e0165550|
|Neul, Jeffrey L; Sahin, Mustafa (2015) Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics 12:519-20|
|Peters, Sarika U; Gordon, Reyna L; Key, Alexandra P (2015) Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes. J Child Neurol 30:145-52|
|Neul, Jeffrey L; Glaze, Daniel G; Percy, Alan K et al. (2015) Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. J Child Neurol 30:1743-8|
|Butler, Merlin G; Wang, Kun; Marshall, Jan D et al. (2015) Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and AlstrÃ¶m syndromes. Adv Genomics Genet 2015:53-75|
|Pozzo-Miller, Lucas; Pati, Sandipan; Percy, Alan K (2015) Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics 12:631-40|
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