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Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis

This study has been completed.
Moorfields Eye Hospital NHS Foundation Trust
Targeted Genetics Corporation
Information provided by (Responsible Party):
University College, London Identifier:
First received: March 20, 2008
Last updated: December 4, 2015
Last verified: December 2013
The purpose of the study is to determine whether gene therapy is safe and effective for the treatment of severe childhood blindness caused by mutations in RPE65.

Condition Intervention Phase
Retinal Degeneration Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) Phase 1 Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration

Resource links provided by NLM:

Further study details as provided by University College, London:

Primary Outcome Measures:
  • intraocular inflammation [ Time Frame: at intervals up to 12 months ]

Secondary Outcome Measures:
  • visual function [ Time Frame: intervals up to 12 months ]

Enrollment: 12
Study Start Date: January 2007
Study Completion Date: December 2014
Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: A
Injection of vector
Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)
Single subretinal injection of vector suspension; up to 3x10e12 vector particles
Other Name: rAAV 2/2.hRPE65p.hRPE65

Detailed Description:
The main objective of the proposed trial is to determine the safety and efficacy subretinal administration of a recombinant adeno-associated viral vector (rAAV 2/2.hRPE65p.hRPE65) at three different dosage levels in individuals with autosomal recessive severe early-onset retinal degeneration due to mutations in RPE65. We have a comprehensive clinical monitoring plan to investigate the safety and efficacy of vector delivery.

Ages Eligible for Study:   5 Years to 30 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Clinical diagnosis of severe early-onset retinal dystrophy confirmed missense mutation(s) in RPE65

Exclusion Criteria:

  • Visual acuity in the study eye better than 6/36 Snellen
  • Hypertension
  • Diabetes mellitus
  • Tuberculosis
  • Renal impairment
  • Immunocompromise
  • Osteoporosis
  • Gastric ulceration
  • Severe affective disorder)
  • Pregnancy or lactation
  Contacts and Locations
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Please refer to this study by its identifier: NCT00643747

United Kingdom
Moorfields Eye Hospital NHS Foundation Trust
London, United Kingdom, EC1V 2PD
Sponsors and Collaborators
University College, London
Moorfields Eye Hospital NHS Foundation Trust
Targeted Genetics Corporation
Study Director: Robin R Ali, PhD University College, London
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: University College, London Identifier: NCT00643747     History of Changes
Other Study ID Numbers: 06/061
Study First Received: March 20, 2008
Last Updated: December 4, 2015

Keywords provided by University College, London:
retinal dystrophy
Leber congenital amaurosis
gene therapy

Additional relevant MeSH terms:
Retinal Degeneration
Leber Congenital Amaurosis
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary processed this record on September 21, 2017