NCT01954953

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

Trial Health

60
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
100

participants targeted

Target at P50-P75 for all trials

Geographic Reach
4 countries

6 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2013

Completed
17 days until next milestone

First Submitted

Initial submission to the registry

September 18, 2013

Completed
19 days until next milestone

First Posted

Study publicly available on registry

October 7, 2013

Completed
2.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2016

Completed
Last Updated

February 4, 2015

Status Verified

September 1, 2013

Enrollment Period

2.3 years

First QC Date

September 18, 2013

Last Update Submit

February 3, 2015

Conditions

Usher Syndrome

Keywords

Retinitis Pigmentosa SyndromicCongenital DeafnessUsher Syndrome Retinitis Pigmentosa and DeafnessProgressive Hearing LossRetinitis Pigmentosa

Outcome Measures

Primary Outcomes (1)

  • Genotype and phenotype correlations in Usher syndrome patients

    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

    up to 3 years (2016)

Study Arms (1)

no intervention

Eligibility Criteria

Age6 Months - 70 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

USH1, USH2 and USH3 as defined by the Usher syndrome consortium

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

CHU, Laboratoire de génétique moléculaire, INSERM

Montpellier, 34093, France

RECRUITING

CIC of CHNO des Quinze-vingts

Paris, 75012, France

RECRUITING

Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz

Mainz, 55099, Germany

RECRUITING

Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology

Nijmegen, 6500 HB, Netherlands

RECRUITING

AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research

Coimbra, 3000-548, Portugal

RECRUITING

IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory

Coimbra, 3000-548, Portugal

RECRUITING

Related Publications (11)

  • 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.

    PMID: 22183366BACKGROUND

  • 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.

    PMID: 22661463BACKGROUND

  • 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.

    PMID: 20671281BACKGROUND

  • 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.

    PMID: 23351521BACKGROUND

  • 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.

    PMID: 21767579BACKGROUND

  • 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.

    PMID: 23143442BACKGROUND

  • 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.

    PMID: 23441107BACKGROUND

  • 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.

    PMID: 22009552BACKGROUND

  • 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.

    PMID: 16582908BACKGROUND

  • 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.

    PMID: 18037993BACKGROUND

  • 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.

    PMID: 21235327BACKGROUND

Related Links

MeSH Terms

Conditions

Usher SyndromesDeafnessRetinitis Pigmentosa

Condition Hierarchy (Ancestors)

Deaf-Blind DisordersHearing LossHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesHearing Loss, SensorineuralSensation DisordersNeurologic ManifestationsNervous System DiseasesBlindnessVision DisordersRetinal DystrophiesRetinal DegenerationRetinal DiseasesEye DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases, HereditaryGenetic Diseases, InbornSigns and SymptomsPathological Conditions, Signs and Symptoms

Central Study Contacts

Ieva Sliesoraityte, MD PhD

CONTACT

ieva.sliesoraityte@inserm.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 18, 2013

First Posted

October 7, 2013

Study Start

September 1, 2013

Primary Completion

January 1, 2016

Last Updated

February 4, 2015

Record last verified: 2013-09

Locations

PT(2)NL(1)FR(2)DE(1)