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

NCT02575430 | Completed

• 1 other identifier: RET NAT 01
• Study Type: observational
• Target: 59
• Locations: 7 countries
• Sites: 9

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.

Conditions

Leber Congenital Amaurosis (LCA); Retinitis Pigmentosa (RP)

Outcome Measures

Primary Outcomes (1)

• Visual field

  Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years

Secondary Outcomes (1)

• Visual acuity

  Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years

Other Outcomes (2)

• Optical coherence tomography, if available

  Previous assessments performed when subject was between the ages of 6 and 65 years

• Electroretinogram, if available

  Previous assessments performed when subject was between the ages of 6 and 65 years

Study Arms (1)

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

Interventions

No treatment: retrospective chart review OTHER

Subjects with IRD

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• QLT Inc.: lead

Study Sites (9)

Wilmer Eye Institute - Johns Hopkins Hospital

Baltimore, Maryland, 21287, United States

Location

Casey Eye Institute - Marquam Hill

Portland, Oregon, 97239-4197, United States

Location

The Hospital for Sick Children, Ophthalmology and Vision Sciences

Toronto, Ontario, M5G 1X8, Canada

Location

Montreal Children's Hospital, McGill University Health Centre

Montreal, Quebec, H4A 3J1, Canada

Location

Glostrup Hospital and National Eye Clinic at the Kennedy Center

Glostrup Municipality, Copenhagen, Denmark

Location

STZ Eyetrial at the Department of Ophthalmology - University of Tübingen

Tübingen, 72076, Germany

Location

Rotterdam Ophthalmic Institute

Rotterdam, 3011 BH, Netherlands

Location

Jules Gonin Eye Hospital - Oculogenetic Unit

Lausanne, CH-1004, Switzerland

Location

Moorfields Eye Hospital - Research and Treatment Centre

London, EC1V 2PD, United Kingdom

Location

MeSH Terms

Conditions

Leber Congenital Amaurosis; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases; Retinal Dystrophies; Retinal Degeneration; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• David Saperstein, MD

  QLT Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 9, 2015
• First Posted: October 14, 2015
• Study Start: December 1, 2015
• Primary Completion: March 1, 2016
• Study Completion: March 1, 2016
• Last Updated: April 29, 2016

Record last verified: 2016-04

Locations

DE (1); NL (1); CH (1); GB (1); US (2); CA (2); DK (1)