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

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

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.

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........