## Protocol Section
### Identification Module
**NCT ID:** NCT02946879

**Brief Title:** Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)

**Official Title:** Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2)

#### Organization Study ID Info
**ID:** MGT004
#### Organization
**Class:** INDUSTRY
**Full Name:** MeiraGTx UK II Ltd
#### Secondary ID Infos
**ID:** 2016-000898-20
**Type:** EUDRACT_NUMBER
### Status Module
#### Completion Date
**Date:** 2023-07

**Type:** ACTUAL

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2024-04-11

**Type:** ACTUAL

**Last Update Submit Date:** 2024-04-10

**Overall Status:** COMPLETED

#### Primary Completion Date
**Date:** 2023-07

**Type:** ACTUAL

#### Start Date
**Date:** 2016-11

**Status Verified Date:** 2024-04

#### Study First Post Date
**Date:** 2016-10-27
**Type:** ESTIMATED
**Study First Submit Date:** 2016-07-22
**Study First Submit QC Date:** 2016-10-25
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** INDUSTRY

**Name:** MeiraGTx UK II Ltd

#### Responsible Party

**Type:** SPONSOR

### Oversight Module

**Oversight Has DMC:** True

### Description Module

**Brief Summary:** This study is a longer-term follow-up study for patients who have been administered AAV2/5-OPTIRPE65 in the Phase I/II, open label, non-randomised, two-centre, dose escalation trial in adults and children with retinal dystrophy associated with defects in RPE65.

**Detailed Description:** The follow up study is designed to collect data on longer-term safety and efficacy of AAV2/5-OPTIRPE65 administration in the OPTIRPE65 trial.

### Conditions Module

**Conditions:**

- Leber Congenital Amaurosis (LCA)

- Eye Diseases

- Eye Diseases, Hereditary

- Retinal Diseases

### Design Module

#### Design Info

**Observational Model:** COHORT

**Time Perspective:** PROSPECTIVE

#### Enrollment Info

**Count:** 15

**Type:** ACTUAL

**Study Type:** OBSERVATIONAL

### Arms Interventions Module

#### Arm Group 1

**Description:** subretinal administration of a single low dose of AAV RPE65

**Intervention Names:**

- Biological: AAV OPTIRPE65

**Label:** Low dose AAV OPTIRPE65

#### Arm Group 2

**Description:** subretinal administration of a single intermediate dose of AAV RPE65

**Intervention Names:**

- Biological: AAV OPTIRPE65

**Label:** Intermediate dose AAV OPTIRPE65

#### Arm Group 3

**Description:** subretinal administration of a single highdose of AAV RPE65

**Intervention Names:**

- Biological: AAV OPTIRPE65

**Label:** High dose AAV OPTIRPE65

### Interventions

#### Intervention 1

**Arm Group Labels:**

- High dose AAV OPTIRPE65

- Intermediate dose AAV OPTIRPE65

- Low dose AAV OPTIRPE65

**Description:** comparison of different doses of AAV RPE65

**Name:** AAV OPTIRPE65

**Type:** BIOLOGICAL

### Outcomes Module

#### Primary Outcomes

**Description:** Safety is defined as the absence of ATIMP-related safety events

**Measure:** Incidence of Adverse Events related to the treatment

**Time Frame:** 5 years

#### Secondary Outcomes

**Description:** Improvements in visual function as assessed by visual assessment

**Measure:** Improvement in the retinal function

**Time Frame:** 5 years

**Description:** Improvements in retinal function as assessed by visual assessment

**Measure:** Improvement in the visual function

**Time Frame:** 5 years

**Description:** Improvement in the participant's quality of life which is measurable by QoL questionnaire

**Measure:** Improvement in quality of life

**Time Frame:** 5 years

### Eligibility Module

**Eligibility Criteria:** Inclusion Criteria:

* Were enrolled and treated in the prior open-label, Phase I/II, dose escalation study involving intraocular administration of AAV2/5-OPTIRPE65

Exclusion Criteria:

* Individuals will be excluded if they are unwilling or unable to meet with the requirements of the study.

**Maximum Age:** 100 Years

**Minimum Age:** 3 Years

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- CHILD

- ADULT

- OLDER_ADULT

**Study Population:** The patient population are those with Leber Congenital Amaurosis (LCA) with gene mutation RPE65 who have participated in the OPTIRPE65 trial.

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Ann Arbor

**Country:** United States

**Facility:** Kellogg Eye Center, University of Michigan Health

**State:** Michigan

**Zip:** 48105

**Location 2:**

**City:** London

**Country:** United Kingdom

**Facility:** Moorfields Eye Hospital NHS Foundation Trust

### IPD Sharing Statement Module

**IPD Sharing:** UNDECIDED

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000012162

- Term: Retinal Degeneration

- ID: D000014786

- Term: Vision Disorders

- ID: D000012678

- Term: Sensation Disorders

- ID: D000009461

- Term: Neurologic Manifestations

- ID: D000009422

- Term: Nervous System Diseases

### Condition Browse Module - Browse Branches

- Abbrev: BC11

- Name: Eye Diseases

- Abbrev: All

- Name: All Conditions

- Abbrev: BC01

- Name: Infections

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: BC10

- Name: Nervous System Diseases

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M8271

- Name: Eye Diseases

- Relevance: HIGH

- As Found: Eye Disease

- ID: M14999

- Name: Retinal Diseases

- Relevance: HIGH

- As Found: Retinal Disease

- ID: M17522

- Name: Virus Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M29107

- Name: Retinal Dystrophies

- Relevance: HIGH

- As Found: Retinal Dystrophy

- ID: M18339

- Name: Eye Diseases, Hereditary

- Relevance: HIGH

- As Found: Eye Diseases, Hereditary

- ID: M28730

- Name: Leber Congenital Amaurosis

- Relevance: HIGH

- As Found: Leber Congenital Amaurosis

- ID: M5047

- Name: Blindness

- Relevance: HIGH

- As Found: Amaurosis

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: HIGH

- As Found: Diseases, Hereditary

- ID: M14997

- Name: Retinal Degeneration

- Relevance: LOW

- As Found: Unknown

- ID: M17530

- Name: Vision Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M15490

- Name: Sensation Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M12404

- Name: Neurologic Manifestations

- Relevance: LOW

- As Found: Unknown

- ID: T3335

- Name: Leber Congenital Amaurosis

- Relevance: HIGH

- As Found: Leber Congenital Amaurosis

- ID: T3344

- Name: Leber Congenital Amaurosis 2

- Relevance: LOW

- As Found: Unknown

### Condition Browse Module - Meshes

- ID: D000001766

- Term: Blindness

- ID: D000005128

- Term: Eye Diseases

- ID: D000012164

- Term: Retinal Diseases

- ID: D000058499

- Term: Retinal Dystrophies

- ID: D000057130

- Term: Leber Congenital Amaurosis

- ID: D000015785

- Term: Eye Diseases, Hereditary

- ID: D000030342

- Term: Genetic Diseases, Inborn

### Misc Info Module

- Version Holder: 2024-05-24
