NCT00643747

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
12

participants targeted

Target at below P25 for phase_1

Timeline
Completed

Started Jan 2007

Longer than P75 for phase_1

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2007

Completed
1.2 years until next milestone

First Submitted

Initial submission to the registry

March 20, 2008

Completed
6 days until next milestone

First Posted

Study publicly available on registry

March 26, 2008

Completed
6.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2014

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2014

Completed
Last Updated

December 7, 2015

Status Verified

December 1, 2013

Enrollment Period

7.9 years

First QC Date

March 20, 2008

Last Update Submit

December 4, 2015

Conditions

Retinal Degeneration

Keywords

retinal dystrophyLeber congenital amaurosisRPE65gene therapy

Outcome Measures

Primary Outcomes (1)

  • intraocular inflammation

    at intervals up to 12 months

Secondary Outcomes (1)

  • visual function

    intervals up to 12 months

Study Arms (1)

A

EXPERIMENTAL

Injection of vector

Biological: tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)

Interventions

tgAAG76 (rAAV 2/2.hRPE65p.hRPE65)BIOLOGICAL

Single subretinal injection of vector suspension; up to 3x10e12 vector particles

Also known as: rAAV 2/2.hRPE65p.hRPE65
A

Eligibility Criteria

Age5 Years - 30 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Moorfields Eye Hospital NHS Foundation Trust

London, EC1V 2PD, United Kingdom

Location

Related Publications (3)

  • Bainbridge JW, Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ, Feathers KL, Luong VA, Yzer S, Balaggan K, Viswanathan A, de Ravel TJ, Casteels I, Holder GE, Tyler N, Fitzke FW, Weleber RG, Nardini M, Moore AT, Thompson DA, Petersen-Jones SM, Michaelides M, van den Born LI, Stockman A, Smith AJ, Rubin G, Ali RR. Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med. 2015 May 14;372(20):1887-97. doi: 10.1056/NEJMoa1414221. Epub 2015 May 4.

    PMID: 25938638BACKGROUND

  • 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. doi: 10.1056/NEJMoa0802268. Epub 2008 Apr 27.

    PMID: 18441371RESULT

  • Ripamonti C, Henning GB, Robbie SJ, Sundaram V, van den Born LI, Casteels I, de Ravel TJ, Moore AT, Smith AJ, Bainbridge JW, Ali RR, Stockman A. Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy. J Vis. 2015;15(15):20. doi: 10.1167/15.15.20.

    PMID: 26605849DERIVED

MeSH Terms

Conditions

Retinal DegenerationRetinal DystrophiesLeber Congenital Amaurosis

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal Diseases

Study Officials

  • Robin R Ali, PhD

    University College, London

    STUDY DIRECTOR

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 20, 2008

First Posted

March 26, 2008

Study Start

January 1, 2007

Primary Completion

December 1, 2014

Study Completion

December 1, 2014

Last Updated

December 7, 2015

Record last verified: 2013-12

Locations

GB(1)