View clinical trials related to Orofaciodigital Syndromes.
Filter by:The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome. These results will make it possible, from patients who have been clearly identified from a clinical, cytogenetic and molecular point of view, to determine a study strategy in such patients. The data obtained will be used to guide clinical geneticists in genetic counselling for patients and their families. Identification of the molecular bases of the different OFD syndromes will make it possible to determine whether or not they belong to the group of ciliopathies like type I OFD and to understand their physiopathological bases. This study will also make it possible to better characterise the phenotype of boys with syndromic mental retardation related to the OFD1 gene and thus to define the clinical criteria of the study of this gene in boys with mental retardation. The complete absence of knowledge concerning the genetic bases of OFD syndromes, apart from type I, the presence of a large collection of samples from patients with OFD syndrome at Dijon CHU, the recognition of the diagnostic laboratory for syndromic OFD at the international level as well as the technical platform and expertise in molecular cytogenetic methods including CGH-array and molecular genetics (sequencing, quantitative PCR, fragment analysis) at the Cytogenetics and Molecular Biology laboratories at Dijon CHU justify the implementation of such a study in 2010.
In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic Resource", NCT00575705). However, studies in the last several years have demonstrated that ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal phenotypes share numerous pathogenic features. In the current competitively- renewed Center, we have expanded this Core resource to include other hepato/renal fibrocystic diseases. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are: 1. - Clinical Database: • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases. 2. - Mutational Database: - Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials. 3- Tissue Resource: - Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders. 4- Educational Resource: - Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.