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Natural History Study in Subjects With Usher Syndrome

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ClinicalTrials.gov Identifier: NCT03814499
Recruitment Status : Recruiting
First Posted : January 24, 2019
Last Update Posted : January 24, 2019
Sponsor:
Information provided by (Responsible Party):
Fondazione Telethon

Brief Summary:
The objective of the study is to evaluate the natural progression of disease over time in USHIB patients

Condition or disease
Usher Syndrome, Type 1B

Detailed Description:
This natural history study (NHS) is being conducted to understand the progression of disease in USH1B patients as measured by a number of vision-related assessments. Disease progression will be evaluated as change over time in these measures, and associations between the endpoints will be examined.

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B)
Actual Study Start Date : June 1, 2018
Estimated Primary Completion Date : December 30, 2020
Estimated Study Completion Date : December 30, 2021





Primary Outcome Measures :
  1. visual acuity [ Time Frame: 1 year ]
    Refraction and Best Corrected Visual Acuity

  2. visual acuity [ Time Frame: 2 years ]
    Refraction and Best Corrected Visual Acuity

  3. visual field testing [ Time Frame: 1 year ]
    kinetic perimetry and a full field static perimetry

  4. visual field testing [ Time Frame: 2 years ]
    kinetic perimetry and a full field static perimetry

  5. Clinical ophthalmic examination [ Time Frame: 1 year ]
    External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function

  6. Clinical ophthalmic examination [ Time Frame: 2 years ]
    External Ocular Examination to assess the motility of the extraocular muscles and the appearance and function

  7. Clinical ophthalmic examination [ Time Frame: 1 year ]
    Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber

  8. Clinical ophthalmic examination [ Time Frame: 2 years ]
    Slit Lamp Examination to assess eyelids, lashes, conjunctiva, cornea, lens, iris and anterior chamber

  9. Clinical ophthalmic examination [ Time Frame: 1 year ]
    Intraocular Pressure measurement

  10. Clinical ophthalmic examination [ Time Frame: 2 years ]
    Intraocular Pressure measurement

  11. Clinical ophthalmic examination [ Time Frame: 1 year ]
    Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.

  12. Clinical ophthalmic examination [ Time Frame: 2 year ]
    Dilated Fundus Ophthalmoscopy to assess the retina, macula, choroid and optic nerve head.


Secondary Outcome Measures :
  1. Microperimetry [ Time Frame: 1 year ]
    central visual field

  2. Microperimetry [ Time Frame: 2 years ]
    central visual field

  3. Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 [ Time Frame: 1 year ]
    Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0

  4. Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 [ Time Frame: 2 years ]
    Safety and Tolerability: Number of participants with treatment-related adverse events as assessed by CTCAE v4.0



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Ages Eligible for Study:   8 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects affected by Usher Syndrome 1B disease fulfilled eligibility criteria
Criteria

Inclusion Criteria:

  1. Must be willing to adhere to protocol for long-term follow-up as evidenced by written informed consent or parental permission and subject assent.
  2. Subjects diagnosed with USH1.
  3. Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound heterozygotes).
  4. Age eight years old or older at the time of baseline.
  5. Visual acuity ≥ 20/640 in at least one eye

Exclusion Criteria:

  1. Unable or unwilling to meet requirements of the study.
  2. Unable to communicate with suitable verbal/auditory and/or tactile sign language (in the opinion of the investigator)
  3. Participation in a clinical study with an investigational drug in the past six months.
  4. Pre-existing eye conditions that would interfere with the interpretation of study endpoints (for example, glaucoma, corneal or significant lenticular opacities, cystoid macular oedema, macular hole).
  5. Complicating systemic diseases in which the disease itself, or the treatment for the disease, can alter ocular function. Examples are malignancies whose treatment could affect central nervous system function (for example, radiation treatment of the orbit; leukemia with CNS/optic nerve involvement). Also excluded would be subjects with immuno- compromising diseases, as there could be susceptibility to opportunistic infection [such as cytomegalovirus (CMV) retinitis].
  6. Subjects with diabetes or sickle cell disease would be excluded if they had any manifestation of advanced retinopathy (e.g. macular edema or proliferative changes).
  7. Prior ocular surgery within three months.
  8. Any other condition that would not allow the potential subject to complete follow-up examinations during the course of the study and, in the opinion of the investigator, makes the potential subject unsuitable for the study.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03814499


Contacts
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Contact: BIANCA FONTANELLA +3908119230622 fontanel@tigem.it

Locations
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Italy
Eye Clinic of the University of Campania Luigi Vanvitelli Recruiting
Naples, Italy
Contact: Francesca Simonelli    +390815666761    Francesca.SIMONELLI@unicampania.it   
Principal Investigator: Francesca Simonelli         
Netherlands
Stichting Oogziekenhuis Rotterdam Recruiting
Rotterdam, Netherlands
Contact: Ingeborgh van den Born       born@oogziekenhuis.nl   
Principal Investigator: Ingeborgh van den Born         
Spain
Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz Recruiting
Madrid, Spain
Contact: Carmen Ayuso       cayuso@fjd.es   
Principal Investigator: Carmen Ayuso         
Sponsors and Collaborators
Fondazione Telethon
Investigators
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Principal Investigator: FRANCESCA SIMONELLI Eye Clinic of the University of Campania Luigi Vanvitelli, Naples, Italy
Principal Investigator: Ingeborgh van den Born Stichting Oogziekenhuis Rotterdam, Rotterdam, The Netherland.
Principal Investigator: Carmen Ayuso Instituto de Investigacion Sanitaria de la Fundacion Jimenez Diaz, Madrid, Spain

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Responsible Party: Fondazione Telethon
ClinicalTrials.gov Identifier: NCT03814499     History of Changes
Other Study ID Numbers: TIGEM3-UshTher-NHS
First Posted: January 24, 2019    Key Record Dates
Last Update Posted: January 24, 2019
Last Verified: January 2019
Additional relevant MeSH terms:
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Usher Syndromes
Syndrome
Disease
Pathologic Processes
Deaf-Blind Disorders
Deafness
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Hearing Loss, Sensorineural
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Blindness
Vision Disorders
Retinitis Pigmentosa
Retinal Dystrophies
Retinal Degeneration
Retinal Diseases
Eye Diseases
Abnormalities, Multiple
Congenital Abnormalities
Eye Diseases, Hereditary
Genetic Diseases, Inborn
Signs and Symptoms