Usher SyndromeEURUSHNCT01954953

Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe

An observational study of Usher Syndrome, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 6 sites in 4 countries.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record

Search all trials

Trial 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… Read more about this study

Who is it for?: Ages 6 months to 70 years
Conditions the study is for: Usher Syndrome
How many people: 100 participants
Where: 6 sitesin 4 countries
Study dates: Sep 2013to Jan 2016
Phase: Observational
Are there results?: None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 6 months to 70 years
All sexes
No healthy volunteers
Child, Adult, Older adult

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

Who may be able to join

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.

Who cannot join

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.

Trial locations and contacts

6 sites in 4 countries.

Ieva Sliesoraityte, MD PhD contact

ieva.sliesoraityte@inserm.fr

Country

City, postcode or hospital

Sites recruiting now only

6 sites in 4 countries

France2 sites, 2 recruiting

CHU, Laboratoire de génétique moléculaire, INSERM
Montpellier, 34093
Christel Vaché, PhD
Christel Vaché, PhD
Recruiting
CIC of CHNO des Quinze-vingts
Paris, 75012
Laurent Vinet, +33140021126, lvinet@quinze-vingts.fr
Jose-Alain Sahel, MD PhD
Recruiting

Other trials in France

Portugal2 sites, 2 recruiting

AIBILI, 4C - Coimbra Coordinating Centre for Clinical Research
Coimbra, 3000-548
Leal Sérgio Casimiro da Silva
Leal Sérgio Casimiro da Silva
Recruiting
IBILI- Faculty of Medicine - University of Coimbra, Center for Hereditary Diseases and Visual Neurosciences Laboratory
Coimbra, 3000-548
Eduardo José Gil Duarte Silva, MD PhD
Eduardo José Gil Duarte Silva, MD PhD
Recruiting

Other trials in Portugal

Germany1 site, 1 recruiting

Johannes Gutenberg University of Mainz, Institute of Zoology, Dept. Cell and Matrix Biology Mainz
Mainz, 55099
Kerstin Nagel-Wolfrum, PhD
Kerstin Nagel-Wolfrum, PhD
Recruiting

Other trials in Germany

Netherlands1 site, 1 recruiting

Radboud University Nijmegen Medical Centre, Dept. Otorhinolaryngology
Nijmegen, 6500 HB
Erwin van Wijk, PhD
Erwin van Wijk, PhD
Recruiting

Other trials in Netherlands

About this study

Official title: European Research Projects on Rare Diseases Driven by Young Investigators

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

Conditions: Usher Syndrome
Keywords: Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome Retinitis Pigmentosa and Deafness, Progressive Hearing Loss, Retinitis Pigmentosa
Medical subject headings: Usher Syndromes, Deafness, Retinitis Pigmentosa

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT01954953
Study group	Role	What they receive
no intervention		Not described

What is being measured

The primary outcome is the main question the study is designed to answer.

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
Measured: up to 3 years (2016)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

Sep 2013Jan 2016

First posted7 Oct 2013 (estimated)
Study startSep 2013
Primary completionJan 2016 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (11)Papers the sponsor has linked to this study.
Other trials for Usher SyndromeStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Prospective
Enrolment: 100 participants (estimated)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01954953
Sponsor's protocol ID: P13-02
Acronym: EURUSH
Status last verified: Sep 2013
First submitted: 18 Sep 2013
Last updated: 4 Feb 2015
Results posted: No
Data monitoring committee: Yes

Publications

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.
PubMed 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.
PubMed 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.
PubMed 20671281
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.
PubMed 23351521
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.
PubMed 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.
PubMed 23143442
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.
PubMed 23441107
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.
PubMed 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, 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.
PubMed 16582908
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.
PubMed 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.
PubMed 21235327

Want to know more?

Ieva Sliesoraityte, MD PhD

ieva.sliesoraityte@inserm.fr

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Active, not recruitingObservational study
Rate of Progression in USH2A-related Retinal Degeneration
Usher Syndrome, Type 2A, Retinitis Pigmentosa 39
RecruitingPhase 1/2
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
RecruitingPhase 3
A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Retinitis Pigmentosa (RP), Usher Syndrome
Not yet recruitingPhase 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Active, not recruitingPhase 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2

All Usher Syndrome trials

Study at a glance

From the registry record, last updated by the sponsor on 4 Feb 2015. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: European Research Projects on Rare Diseases Driven by Young Investigators
ClinicalTrials.gov ID: NCT01954953
Acronym / sponsor ID: EURUSH / P13-02
Conditions: Usher Syndrome
Keywords: Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome Retinitis Pigmentosa and Deafness, Progressive Hearing Loss, Retinitis Pigmentosa
Study type: Observational
Recruitment status: Unknown status
Enrolment: 100 participants (estimated)
Lead sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-VingtsUniversity, hospital or other
Collaborators: Institut National de la Santé Et de la Recherche Médicale, France
Study start: Sep 2013
Primary completion: Jan 2016 (estimated)
First posted: 7 Oct 2013 (estimated)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

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

Study design

Observational model: Cohort
Time perspective: Prospective
Number of arms: 1

Arm	Type	Receives
no intervention	–	–

Who may qualify

Ages: 6 months to 70 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult
Study population: USH1, USH2 and USH3 as defined by the Usher syndrome consortium

Key inclusion criteria (3 listed)

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.

Key exclusion criteria (3 listed)

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.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

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

Results and safety

Results are not available in the source record.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2015.
Background: PubMed 22183366Sliesoraityte 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.
Background: PubMed 22661463Overlack 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.
Background: PubMed 20671281Goldmann 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.
Background: PubMed 23351521Kersten 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.
Background: PubMed 21767579Overlack 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.
Background: PubMed 23143442Estrada-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.
Background: PubMed 23441107Garcia-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.
Background: PubMed 22009552Vache 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.
Background: PubMed 16582908Stoetzel 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.
Background: PubMed 18037993Castelo-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.
Background: PubMed 21235327Goldmann 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.
Institut de la VisionLink provided by the sponsor.

Related trials for Usher Syndrome

Active, not recruitingObservational study
Rate of Progression in USH2A-related Retinal Degeneration
Usher Syndrome, Type 2A, Retinitis Pigmentosa 39
RecruitingPhase 1/2
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
RecruitingPhase 3
A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Retinitis Pigmentosa (RP), Usher Syndrome
Not yet recruitingPhase 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Active, not recruitingPhase 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Ieva Sliesoraityte, MD PhD contact

ieva.sliesoraityte@inserm.fr

6 sites in 4 countries: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Usher Syndrome, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 6 sites in 4 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: status not confirmed, as of the sponsor's last update on 4 Feb 2015. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites in France, Portugal, Germany, Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact Ieva Sliesoraityte, MD PhD (ieva.sliesoraityte@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Genotype and phenotype correlations in Usher syndrome patients (time frame: up to 3 years (2016)). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01954953, which also lists 11 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Feb 2015.