Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
| Autor: | David Rodriguez-Buritica, Mary Ellen Little, Kerry Schulze, Jacqueline T. Hecht, Julie Hoover-Fong, Adekemi Yewande Alade, John McGready, Cory J. Smid, S. Shahrukh Hashmi, Peggy Modaff, Maria Elena Serna, Chengxin Liu, Janet M. Legare, Michael B. Bober, Richard M. Pauli |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male Pediatrics medicine.medical_specialty Adolescent Polysomnography 030105 genetics & heredity Osteochondrodysplasias Article Achondroplasia 03 medical and health sciences Young Adult 0302 clinical medicine 030225 pediatrics Medicine Humans Prospective Studies Prospective cohort study Child Genetics (clinical) Retrospective Studies medicine.diagnostic_test business.industry Medical record Infant Retrospective cohort study Anthropometry medicine.disease United States Child Preschool Cohort Female business Natural history study |
| Zdroj: | Genetics in Medicine |
| ISSN: | 1530-0366 |
| Popis: | Purpose Achondroplasia is the most common short stature skeletal dysplasia (1:20,000-30,000), but the risk of adverse health outcomes from cardiovascular diseases, pain, poor function, excess weight, and sleep apnea is unclear. A multicenter retrospective natural history study was conducted to understand medical and surgical practices in achondroplasia. Methods Data from patients with achondroplasia evaluated by clinical geneticists at Johns Hopkins University, A.I. duPont Hospital for Children, McGovern Medical School UTHealth, and University of Wisconsin were populated into a REDCap database. All available retrospective medical records of anthropometry (length/height, weight, occipitofrontal circumference), surgery, polysomnography (PSG), and imaging (e.g., X-ray, magnetic resonance imaging) were included. Results Data from 1,374 patients (48.8% female; mean age 15.4 ± 13.9 years) constitute the primary achondroplasia cohort (PAC) with 496 subjects remaining clinically active and eligible for prospective studies. Within the PAC, 76.0% had a de novo FGFR3 pathologic variant and 1,094 (79.6%) had one or more achondroplasia-related surgeries. There are ≥37,000 anthropometry values, 1,631 PSGs and 10,727 imaging studies. Conclusion This is the largest multicenter achondroplasia natural history study, providing a vast array of medical information for use in caring for these patients. This well-phenotyped cohort is a reference population against which future medical and surgical interventions can be compared. |
| Databáze: | OpenAIRE |
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