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

Retinitis Pigmentosa (RP) Clinical Trial

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)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02575430
• Other study ID #: RET NAT 01
• Status: Completed
• Phase: N/A
• First received: October 9, 2015
• Last updated: April 28, 2016
• Start date: December 2015
• Est. completion date: March 2016

Study information

• Verified date: April 2016
• Source: QLT Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: Canada: Institutional Review BoardDenmark: Ethics CommitteeNetherlands: Independent Ethics CommitteeUnited States: Institutional Review BoardGermany: Ethics CommissionUnited Kingdom: Research Ethics CommitteeSwitzerland: Ethikkommission
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 59
• Est. completion date: March 2016
• Est. primary completion date: March 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 8 Years and older

Eligibility

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).

Study Design

Time Perspective: Retrospective

Related Conditions & MeSH terms

• Leber Congenital Amaurosis
• Leber Congenital Amaurosis (LCA)
• Retinal Diseases
• Retinitis Pigmentosa
• Retinitis Pigmentosa (RP)

Intervention

Other:
• No treatment: retrospective chart review

Locations

Country	Name	City	State
Canada	Montreal Children's Hospital, McGill University Health Centre	Montreal	Quebec
Canada	The Hospital for Sick Children, Ophthalmology and Vision Sciences	Toronto	Ontario
Denmark	Glostrup Hospital and National Eye Clinic at the Kennedy Center	Glostrup	Copenhagen
Germany	STZ Eyetrial at the Department of Ophthalmology - University of Tübingen	Tübingen
Netherlands	Rotterdam Ophthalmic Institute	Rotterdam
Switzerland	Jules Gonin Eye Hospital - Oculogenetic Unit	Lausanne
United Kingdom	Moorfields Eye Hospital - Research and Treatment Centre	London
United States	Wilmer Eye Institute - Johns Hopkins Hospital	Baltimore	Maryland
United States	Casey Eye Institute - Marquam Hill	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
QLT Inc.

Countries where clinical trial is conducted

United States,  Canada,  Denmark,  Germany,  Netherlands,  Switzerland,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Optical coherence tomography, if available		Previous assessments performed when subject was between the ages of 6 and 65 years	No
Other	Electroretinogram, if available		Previous assessments performed when subject was between the ages of 6 and 65 years	No
Primary	Visual field		Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years	No
Secondary	Visual acuity		Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years	No