Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
NCT ID: NCT01954953
Last Updated: 2015-02-04
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
UNKNOWN
100 participants
OBSERVATIONAL
2013-09-30
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Tasks:
* Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect.
* Perform genotype and phenotype correlations in Usher syndrome patients
* Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Clinical and Genetic Testing of Patients With Usher Syndrome
NCT03319524
Natural History and Genetic Studies of Usher Syndrome
NCT00106743
Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
NCT04820244
Study of Usher Syndromes, Type 1 and Type 2
NCT00001347
A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
NCT00016471
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
no intervention
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Informed consent and agreement to participate in the study;
* Distance best corrected visual acuity ≥ 0.1.
Exclusion Criteria
* Unwillingness to provide a blood sample ;
* Unwilling and/or unable to undergo the study procedures.
6 Months
70 Years
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
CHU, Laboratoire de génétique moléculaire, INSERM
Montpellier, , France
CIC of CHNO des Quinze-vingts
Paris, , France
Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
Mainz, , Germany
Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
Nijmegen, , Netherlands
AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
Coimbra, , Portugal
IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
Coimbra, , Portugal
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Christel Vaché, PhD
Role: primary
Kerstin Nagel-Wolfrum, PhD
Role: primary
Erwin van Wijk, PhD
Role: primary
Leal Sérgio Casimiro da Silva
Role: primary
Eduardo José Gil Duarte Silva, MD PhD
Role: primary
References
Explore related publications, articles, or registry entries linked to this study.
Sliesoraityte I, Troeger E, Bernd A, Kurtenbach A, Zrenner E. Correlation between spectral domain OCT retinal nerve fibre layer thickness and multifocal pattern electroretinogram in advanced retinitis pigmentosa. Adv Exp Med Biol. 2012;723:471-8. doi: 10.1007/978-1-4614-0631-0_59. No abstract available.
Overlack N, Goldmann T, Wolfrum U, Nagel-Wolfrum K. Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. Invest Ophthalmol Vis Sci. 2012 Jun 26;53(7):4140-6. doi: 10.1167/iovs.12-9812.
Goldmann T, Rebibo-Sabbah A, Overlack N, Nudelman I, Belakhov V, Baasov T, Ben-Yosef T, Wolfrum U, Nagel-Wolfrum K. Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6671-80. doi: 10.1167/iovs.10-5741. Epub 2010 Jul 29.
Kersten FF, van Wijk E, Hetterschijt L, Baubeta K, Peters TA, Aslanyan MG, van der Zwaag B, Wolfrum U, Keunen JE, Roepman R, Kremer H. The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically. Cilia. 2012 Apr 25;1(1):2. doi: 10.1186/2046-2530-1-2.
Overlack N, Kilic D, Bauss K, Marker T, Kremer H, van Wijk E, Wolfrum U. Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochim Biophys Acta. 2011 Oct;1813(10):1883-92. doi: 10.1016/j.bbamcr.2011.05.015. Epub 2011 Jul 13.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.
Garcia-Garcia G, Besnard T, Baux D, Vache C, Aller E, Malcolm S, Claustres M, Millan JM, Roux AF. The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Mol Vis. 2013;19:367-73. Epub 2013 Feb 13.
Vache C, Besnard T, le Berre P, Garcia-Garcia G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2.
Castelo-Branco M, Mendes M, Sebastiao AR, Reis A, Soares M, Saraiva J, Bernardes R, Flores R, Perez-Jurado L, Silva E. Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders. J Clin Invest. 2007 Dec;117(12):3720-9. doi: 10.1172/JCI32556.
Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K. PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther. 2011 May;22(5):537-47. doi: 10.1089/hum.2010.067. Epub 2011 Mar 25.
Related Links
Access external resources that provide additional context or updates about the study.
Institut de la Vision
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
P13-02
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.