Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis

This study is currently recruiting participants.

Verified by University College, London, February 2009

First Received: March 20, 2008 Last Updated: February 13, 2009 History of Changes

Sponsors and Collaborators:	University College, London Moorfields Eye Hospital NHS Foundation Trust Targeted Genetics Corporation
Information provided by:	University College, London
ClinicalTrials.gov Identifier:	NCT00643747

Purpose

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 I Phase II

Genetics Home Reference related topics: Lenz microphthalmia syndrome oculofaciocardiodental syndrome Peters plus syndrome X-linked juvenile retinoschisis

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study
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

Further study details as provided by University College, London:

Primary Outcome Measures:

intraocular inflammation [ Time Frame: at intervals up to 12 months ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:

visual function [ Time Frame: intervals up to 12 months ] [ Designated as safety issue: Yes ]

Estimated Enrollment:	12
Study Start Date:	January 2007
Estimated Primary Completion Date:	January 2013 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
A: Experimental Injection of vector	Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65) Single subretinal injection of vector suspension; up to 3x10e11 vector particles

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.

Eligibility

Ages Eligible for Study:	8 Years to 30 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00643747

Contacts

Contact: James WB Bainbridge, PhD FRCOphth

02076084023

mol.therapy@ucl.ac.uk

Locations

United Kingdom
Moorfields Eye Hospital NHS Foundation Trust	Recruiting
London, United Kingdom, EC1V 2PD
Contact: James Bainbridge, PhD FRCOphth 02076084023 mol.therapy@ucl.ac.uk
Principal Investigator: James WB Bainbridge, PhD FRCOphth

Sponsors and Collaborators

University College, London

Moorfields Eye Hospital NHS Foundation Trust

Targeted Genetics Corporation

Investigators

Study Director:

Robin R Ali, PhD

University College, London

More Information

No publications provided by University College, London

Additional publications automatically indexed to this study by National Clinical Trials Identifier (NCT ID):

Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008 May 22;358(21):2231-9. Epub 2008 Apr 27.

Responsible Party:	( Professor Robin R Ali )
Study ID Numbers:	ALIR1015
Study First Received:	March 20, 2008
Last Updated:	February 13, 2009
ClinicalTrials.gov Identifier:	NCT00643747 History of Changes
Health Authority:	United Kingdom: Medicines and Healthcare Products Regulatory Agency

Keywords provided by University College, London:

retinal dystrophy
Leber congenital amaurosis
RPE65
gene therapy

Study placed in the following topic categories:

Eye Diseases
Amaurosis Congenita of Leber
Optic Atrophy
Retinal Degeneration
Neurodegenerative Diseases
Virus Diseases
Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn
Optic Nerve Disorder
Eye Diseases, Hereditary
Atrophy
Optic Nerve Diseases
Optic Atrophies, Hereditary
Retinal Diseases

Additional relevant MeSH terms:

Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Eye Diseases
Nervous System Diseases
Optic Atrophy
Eye Diseases, Hereditary

Retinal Degeneration
Optic Nerve Diseases
Cranial Nerve Diseases
Neurodegenerative Diseases
Optic Atrophies, Hereditary
Retinal Diseases

ClinicalTrials.gov processed this record on May 07, 2009