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Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00643747
Recruitment Status : Completed
First Posted : March 26, 2008
Last Update Posted : December 7, 2015
Moorfields Eye Hospital NHS Foundation Trust
Targeted Genetics Corporation
Information provided by (Responsible Party):
University College, London

Brief Summary:
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 or disease Intervention/treatment Phase
Retinal Degeneration Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) Phase 1 Phase 2

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 12 participants
Allocation: N/A
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
Study Start Date : January 2007
Actual Primary Completion Date : December 2014
Actual Study Completion Date : December 2014

Arm Intervention/treatment
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

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

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

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00643747

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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
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Study Director: Robin R Ali, PhD University College, London
Publications of Results:
Other Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: University College, London
ClinicalTrials.gov Identifier: NCT00643747    
Other Study ID Numbers: 06/061
First Posted: March 26, 2008    Key Record Dates
Last Update Posted: December 7, 2015
Last Verified: December 2013
Keywords provided by University College, London:
retinal dystrophy
Leber congenital amaurosis
gene therapy
Additional relevant MeSH terms:
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Retinal Degeneration
Leber Congenital Amaurosis
Eye Diseases, Hereditary
Eye Diseases
Retinal Diseases