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Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT

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ClinicalTrials.gov Identifier: NCT02575430
Recruitment Status : Completed
First Posted : October 14, 2015
Last Update Posted : April 29, 2016
Sponsor:
Information provided by (Responsible Party):
QLT Inc.

Brief Summary:
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.

Condition or disease Intervention/treatment
Leber Congenital Amaurosis (LCA) Retinitis Pigmentosa (RP) Other: No treatment: retrospective chart review

Detailed Description:

This is a retrospective, uncontrolled, multicenter, case history study to determine the natural history of visual function in patients with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.

Up to 60 subjects will be enrolled in this study at approximately 12 study centers in Canada, the US and Europe.


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Study Type : Observational
Actual Enrollment : 59 participants
Time Perspective: Retrospective
Official Title: Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Study Start Date : December 2015
Actual Primary Completion Date : March 2016
Actual Study Completion Date : March 2016


Group/Cohort Intervention/treatment
Subjects with IRD
IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
Other: No treatment: retrospective chart review



Primary Outcome Measures :
  1. Visual field [ Time Frame: Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years ]

Secondary Outcome Measures :
  1. Visual acuity [ Time Frame: Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years ]

Other Outcome Measures:
  1. Optical coherence tomography, if available [ Time Frame: Previous assessments performed when subject was between the ages of 6 and 65 years ]
  2. Electroretinogram, if available [ Time Frame: Previous assessments performed when subject was between the ages of 6 and 65 years ]


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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 with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
Criteria

Inclusion Criteria:

  • Male or female subjects aged 8 or older with IRD (LCA or RP) caused by inherited autosomal recessive mutation in either RPE65 or LRAT.
  • Subjects who have at least 2 documented kinetic visual field assessments of the same isopter(s) in at least one eye performed at least 2 years apart on the same type of equipment when the subject was between the ages of 6 and 65 years.
  • If applicable, subjects who provide informed consent for the study (the requirement for informed consent may be applicable to all sites or may be waived by the IRB and/or local regulations). The parent or guardian must sign an approved informed consent form for the study for subjects younger than the age of majority.

Exclusion Criteria:

  • Subjects, who in the Investigator's opinion, have any severe acute or chronic medical condition, psychiatric condition, physical examination finding or laboratory abnormality that may interfere with the interpretation of their visual function data.
  • Subjects with concomitant bilateral ocular disorders that may affect visual acuity or visual fields (e.g., advanced glaucoma, optic neuritis, anterior ischemic optic neuropathy, advanced cataract, intraocular surgery).

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): NCT02575430


Locations
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United States, Maryland
Wilmer Eye Institute - Johns Hopkins Hospital
Baltimore, Maryland, United States, 21287
United States, Oregon
Casey Eye Institute - Marquam Hill
Portland, Oregon, United States, 97239-4197
Canada, Ontario
The Hospital for Sick Children, Ophthalmology and Vision Sciences
Toronto, Ontario, Canada, M5G 1X8
Canada, Quebec
Montreal Children's Hospital, McGill University Health Centre
Montreal, Quebec, Canada, H4A 3J1
Denmark
Glostrup Hospital and National Eye Clinic at the Kennedy Center
Glostrup, Copenhagen, Denmark
Germany
STZ Eyetrial at the Department of Ophthalmology - University of Tübingen
Tübingen, Germany, 72076
Netherlands
Rotterdam Ophthalmic Institute
Rotterdam, Netherlands, 3011 BH
Switzerland
Jules Gonin Eye Hospital - Oculogenetic Unit
Lausanne, Switzerland, CH-1004
United Kingdom
Moorfields Eye Hospital - Research and Treatment Centre
London, United Kingdom, EC1V 2PD
Sponsors and Collaborators
QLT Inc.
Investigators
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Study Director: David Saperstein, MD QLT Inc.

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Responsible Party: QLT Inc.
ClinicalTrials.gov Identifier: NCT02575430     History of Changes
Other Study ID Numbers: RET NAT 01
First Posted: October 14, 2015    Key Record Dates
Last Update Posted: April 29, 2016
Last Verified: April 2016
Additional relevant MeSH terms:
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Blindness
Retinitis
Retinitis Pigmentosa
Retinal Diseases
Leber Congenital Amaurosis
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms