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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.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Subjects with IRD | IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No treatment: retrospective chart review | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Visual field | Change in visual field over time. Previous assessments performed when subject was between the ages of 6 and 65 years |
| Measure | Description | Time Frame |
|---|---|---|
| Visual acuity | Change in visual acuity over time. Previous assessments performed when subject was between the ages of 6 and 65 years |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
Inclusion Criteria:
Exclusion Criteria:
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Subjects with IRD phenotypically diagnosed as LCA or RP caused by autosomal recessive mutation in RPE65 or LRAT.
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| Name | Affiliation | Role |
|---|---|---|
| David Saperstein, MD | QLT Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Wilmer Eye Institute - Johns Hopkins Hospital | Baltimore | Maryland | 21287 | United States | ||
| Casey Eye Institute - Marquam Hill |
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| Portland |
| Oregon |
| 97239-4197 |
| United States |
| The Hospital for Sick Children, Ophthalmology and Vision Sciences | Toronto | Ontario | M5G 1X8 | Canada |
| Montreal Children's Hospital, McGill University Health Centre | Montreal | Quebec | H4A 3J1 | Canada |
| Glostrup Hospital and National Eye Clinic at the Kennedy Center | Glostrup Municipality | Copenhagen | Denmark |
| STZ Eyetrial at the Department of Ophthalmology - University of Tübingen | Tübingen | 72076 | Germany |
| Rotterdam Ophthalmic Institute | Rotterdam | 3011 BH | Netherlands |
| Jules Gonin Eye Hospital - Oculogenetic Unit | Lausanne | CH-1004 | Switzerland |
| Moorfields Eye Hospital - Research and Treatment Centre | London | EC1V 2PD | United Kingdom |
| ID | Term |
|---|---|
| D057130 | Leber Congenital Amaurosis |
| D012174 | Retinitis Pigmentosa |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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