Trial document

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Trial Description

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European Research Projects on Rare Diseases Driven by Young Investigators

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Trial Acronym


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URL of the Trial


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Brief Summary in Lay Language

This study aims to characterize Usher patients in order to correlate this data with genetic


- 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

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Brief Summary in Scientific Language


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Do you plan to share individual participant data with other researchers?


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Description IPD sharing plan:


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Organizational Data

  •   DRKS00005572
  •   2014/04/01
  •   2013/09/18
  •   yes
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Secondary IDs

  •   NCT01954953  (
  •   P13-02  (Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts)
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Health Condition or Problem studied

  •   Usher Syndrome
  •   Q87.8 -  Other specified congenital malformation syndromes, not elsewhere classified
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Interventions/Observational Groups

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  •   Non-interventional
  •   Observational study
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  •   N/A
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Primary Outcome

- Genotype and phenotype correlations in Usher syndrome patients; time frame: up to 3 years (2016); Protocol outline: patients undergo clinical and molecular studies. These include extensive ophthalmologic (best corrected visual acuity, refraction, tonometry, color vision, visual field testing, pupillography*, full-field electroretinogram, multifocal electroretinogram, autofluorescence imaging, optical coherence tomography, adaptive optics*) examination, audiologic and vestibular evaluation and obtaining blood samples for genetic analysis.
*only if available

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Secondary Outcome


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Countries of Recruitment

  •   France
  •   Germany
  •   Netherlands
  •   Portugal
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Locations of Recruitment

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  •   2013/09/30
  •   100
  •   Multicenter trial
  •   International
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Inclusion Criteria

  •   Both, male and female
  •   6   Months
  •   70   Years
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Additional Inclusion Criteria

Inclusion criteria :

- Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome

- Informed consent and agreement to participate in the study;

- Distance best corrected visual acuity ≥ 0.1.

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Exclusion Criteria

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.

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  • start of 1:1-Block address primary-sponsor
    • Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
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    • Institut National de la Santé Et de la Recherche Médicale, France
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    • Ieva Sliesoraityte, MD PhD 
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    • Ieva Sliesoraityte, MD PhD 
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Sources of Monetary or Material Support

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    • Bitte wenden Sie sich an den Sponsor / Please refer to primary sponsor
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  •   Recruiting ongoing
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Trial Publications, Results and other Documents

  •   Institut de la Vision
  •   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.; 22183366
  •   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.; 22661463
  •   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.; 20671281
  •   Kersten FF, van Wijk E, Hetterschijt L, Bau╬▓ 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.; 23351521
  •   Overlack N, Kilic D, Bauss K, Märker 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.; 21767579
  •   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.; 23143442
  •   García-García G, Besnard T, Baux D, Vaché 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.; 23441107
  •   Vaché C, Besnard T, le Berre P, García-García 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.; 22009552
  •   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, Mégarbané 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. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D].; 16582908
  •   Castelo-Branco M, Mendes M, Sebastião AR, Reis A, Soares M, Saraiva J, Bernardes R, Flores R, Pérez-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.; 18037993
  •   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.; 21235327
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  •   1
  •   2013/12/01
* This entry means the parameter is not applicable or has not been set.