Dataset Information

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

ABSTRACT: BACKGROUND:The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation. RESULTS:The updated OPA1 database, which registers all the patients from our center as well as those reported in the literature, now covers a total of 831 patients: 697 with isolated dominant optic atrophy (DOA), 47 with DOA "plus", and 83 with asymptomatic or unclassified DOA. It comprises 516 unique OPA1 variants, of which more than 80% (414) are considered pathogenic. Full clinical data for 118 patients are documented using the Human Phenotype Ontology, a standard vocabulary for referencing phenotypic abnormalities. Contributors may now make online submissions of phenotypes related to OPA1 mutations, giving clinical and molecular descriptions together with detailed ophthalmological and neurological data, according to an international thesaurus. CONCLUSIONS:The evolution of the OPA1 database towards the LOVD, using unified nomenclature, should ensure its interoperability with other databases and prove useful for molecular diagnoses based on gene-panel sequencing, large-scale mutation statistics, and genotype-phenotype correlations.

SUBMITTER: Le Roux B

PROVIDER: S-EPMC6734442 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Le Roux Bastien B Lenaers Guy G Zanlonghi Xavier X Amati-Bonneau Patrizia P Chabrun Floris F Foulonneau Thomas T Caignard Angélique A Leruez Stéphanie S Gohier Philippe P Procaccio Vincent V Milea Dan D den Dunnen Johan T JT Reynier Pascal P Ferré Marc M

Orphanet journal of rare diseases 20190910 1

<h4>Background</h4>The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved towards a centralized and more reliable database using the Global Variome shared Leiden Open-source Variation Database (LOVD) installation.<h4>Results</h4>The updated OPA1 database, which registers all the p ...[more]

PMID: 31500643

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Project description:BackgroundSince the national clinical trials registry ( ClinicalTrials.gov ) launched in February 2000, more than 360,000 research studies in the United States and over 200 countries have registered. As the characteristics of pediatric clinical studies keep changing over time and the results-reporting mechanism is under evolving, to know about the relevant updates of data elements and the effect of policies on the quality of reporting results is significant.MethodsIn this research, 53,060 clinical studies related to children registered from January 2008 to December 2019 were downloaded from ClinicalTrials.gov on August 1st, 2020. Different types of studies and critical categorical variables were identified, based on which, Cochran-Armitage test was performed to explore temporal trend of study characteristics and common pediatric clinical conditions in four time subsets. Further, to examine heterogeneity among subgroups (funding sources, funding sites, pediatric clinical conditions,etc), chi-squared test was applied.ResultsA total of 36,136 clinical trials and 16,692 observational studies were identified during the study period. The pediatric clinical trials increased from 7,029 (January 2008-December 2010) to 11,738 (January 2017-December 2019). The number of missing data has declined, with the maximum extent decline from 3.7 to 0.0% (Z = - 15.90, p < 0.001). Drug trials decreased from 48.8 to 28.9% (Z = - 24.68, p < 0.001). Behavioral trials, on the other hand, increased from 12.6 to 20.4% (Z = 12.28, p < 0.001). Most pediatric clinical trials were small-scale (58.9% enrolling 1-100 participants), single-site (61.4%) and funded neither by industry nor by the NIH (59.2%). The proportion of reporting study results varied by study type (χ2 = 1,256.8, p < 0.001), lead sponsor (χ2 = 4,545.6, p < 0.001), enrollment (χ2 = 29.4, p < 0.001) and trial phase (χ2 = 218.8, p < 0.001).ConclusionPediatric clinical studies registered in ClinicalTrials.gov were dominated by small-scale interventional trials, containing significant heterogeneity in funding sources, funding sites, pediatric clinical conditions and study characteristics. Although the results database has evolved in the past decade, efforts to strengthen the practice of systematic reporting must be continued.

Dataset Information

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Publications

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Similar Datasets

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