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Bed to Bench (BTB) Collaboration for Skeletal Research
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20-032C-2
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Bed to Bench (BTB) Collaboration for Skeletal Research
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Dr. I-Ping Chen
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In this study,We aim to evaluate the dentition and craniofacial phenotypes of patients with AHO and OI in order to contribute to the understanding of their overall condition, specifically as it relates to the dental and craniofacial development, skeletal development, and potential treatments needed.We will collaborate with Dr. Germain-Lee, who is a nationally and internationally well-known pediatric endocrinologist and who follows the largest population of patients with Albright hereditary osteodystrophy (AHO) and other rare genetic bone disorders. This study will focus on AHO and osteogenesis imperfecta (OI). Hypothesis/Question: This study aims to answer the following questions: Is there a genotype-phenotype correlation of dental and craniofacial abnormalities in pseudohypoparathyroidism type 1a (PHP1A) and pseudopseudohypoparathyroidism (PPHP), two forms of AHO, and in the various types of OI? Does the severity of the dental and craniofacial abnormalities associated with specific genetic mutations correlate with the severity of their medical conditions? Is there a difference in the dental and craniofacial phenotype in PHP1A versus PPHP thereby implicating possible hormonal resistance and imprinting as being involved? Is there a difference in the dental and craniofacial phenotypes in OI even among patients with the same OI type? Aims / objectives To characterize the dental phenotype and craniofacial phenotypes of AHO and OI in detail: Thorough physical examination and laboratory testing will be performed in Dr. Germain-Lee’s clinic as part of standard care. Medical records will be obtained and genetic testing for disease confirmation will be performed. Dentists will perform dental and craniofacial examinations and necessary dental procedures. This study will contribute to a better understanding of phenotypic characteristics for specific rare genetic skeletal disorders for which the dental and craniofacial phenotype are not well-defined. To correlate dental/craniofacial abnormalities with the severity of the medical condition and the disease-causing genotype: Patients recruited in this study will have their disease mutation identified prior to the recruitment. We will investigate genotype-phenotype correlations. To provide guidelines for dental/craniofacial treatment of these patient populations: Our studies have the potential to change the standard of care for patients with AHO and OI. To establish a database that includes a wide range of clinical parameters and phenotypes in patients with AHO and OI that will include the dental and craniofacial phenotypes. In addition, we will include the dental findings into the natural history of rare skeletal disorders.
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Muscle, Bone and Cartilage
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Check with study contact
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Megyn Clement. Telephone: 860-679-4995. Email: mclement@uchc.edu
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Enrolling/recruiting. For current recruitment status, please check with study contact.
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