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Completed

NCT Number: NCT01496040

Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65

The purpose of the study is to assess the safety and efficacy of the active substance rAAV-2/4.hRPE65 in patients with Leber Congenital Amaurosis or Congenital severe early-onset retinal degeneration associated with RPE65 mutation.

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Key information

Conditions

Leber Congenital Amaurosis Eye Diseases Eye Diseases, Hereditary Retinal Diseases

Age range

6 year–50 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

CHU Nantes

Nantes, 44000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Mutations that code for abnormal RPE65 protein
  • Presence of characteristic abnormalities in fundus
  • Dramatic reduction of both rods ans cones ERG responses
  • Low visual acuity <0.32
  • inform consent signed

Exclusion criteria

  • Patients with chronic conditions such a haematological, cardiac, renal diseases
  • Patients with, within the past 6 months, a clinically significant cardiac disease or known congestive heart failure, cardiac rhytm and conduction abnormalities
  • Patients with pulmonaty dysfunction
  • Patients with suspected rheumatoid arthritis
  • Patients with current systemic infection........

Treatment and study plan

rAAV2/4.hRPE65

Drug

One injection in on eye

Cohorte 1 : 3 patients will receive one injection of up to 400 microliters of the IMP

Cohorte 2 : 3 patients will receive one injection of up to 800 microliters of the IMP.

Cohorte 3 : 3 patients under age of eighteen will receive one injection up to 400 or 800 microliters of the IMP.

Primary outcomes

  1. The drug safety evaluation after administration

    Time frame: After administration of the gene therapy product.The patient will be folloed for the duration of the hospital stay, an average of 7 days

    Biodistribution : Urine sampling and nasal secretion will be collected at several time points after administration of the gene therapy product during all the duration of hospital stay, an average of 7 days.

Secondary outcomes

  1. Different efficacy parameters and immune parameters have to be measured to conclude on the overall amelioration of quality of life of enrolled patients

    Time frame: Between Day -120 and Day-7, Day 5, Day 14, Day 30 Day 60, Day 90, Day 120, Day 180, Day 360

    Recording global ERG (electroretinogram)

    Patient efficacy questionnaire

    Testing of far and near visual acuity, color vision, pupillometry, microperimetry and dark adaptation.

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Registry information

Official study title

Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65

Acronym: RPE65

Important dates

Study start
2011
Primary completion
2014
Study completion
2014
First posted
Dec 21, 2011
Registry last updated
Oct 7, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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