Clinical trial NCT01954953: Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Official title: European Research Projects on Rare Diseases Driven by Young Investigators
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Usher Syndrome
Keywords: Retinitis Pigmentosa Syndromic
Congenital Deafness
Usher Syndrome Retinitis Pigmentosa and Deafness
Progressive Hearing Loss
Retinitis Pigmentosa
Lead sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Sponsor class: OTHER
Collaborators: name: Institut National de la Santé Et de la Recherche Médicale, France
First posted: 2013-10-07
Enrollment: 100
Sex: ALL
Minimum age (years): 6
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: USH1, USH2 and USH3 as defined by the Usher syndrome consortium

Brief summary: This study aims to characterize Usher patients in order to correlate this data with genetic information.

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


Eligibility criteria: Inclusion criteria :

* Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium;
* Informed consent and agreement to participate in the study;
* Distance best corrected visual acuity ≥ 0.1.

Exclusion criteria:

* Systemic pathologies or severe ocular pathologies, systemic or topical medication usage, and/or other otolaryngology pathologies which could contaminate the results;
* Unwillingness to provide a blood sample ;
* Unwilling and/or unable to undergo the study procedures.

Primary outcomes:
measure: Genotype and phenotype correlations in Usher syndrome patients
timeFrame: up to 3 years (2016)
Secondary outcomes:
Other outcomes:
Locations:
city: Montpellier
country: France
facility: CHU, Laboratoire de génétique moléculaire, INSERM
city: Paris
country: France
facility: CIC of CHNO des Quinze-vingts
city: Mainz
country: Germany
facility: Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
city: Nijmegen
country: Netherlands
facility: Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
city: Coimbra
country: Portugal
facility: AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
city: Coimbra
country: Portugal
facility: IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
Study officials:
References:
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citation: 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.
citation: 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.
citation: 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.
citation: 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.
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citation: 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.