ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 8 CONTAINING THE HUMAN CNGA3 GENE UNDER THE CONTROL OF A CONE ARRESTIN PROMOTER for Achromatopsia | CNGA3-linked achromatopsia

Inclusion criteria

• {"criterion_text":"- clinical diagnosis of achromatopsia\n- Female patients of childbearing potential must agree to use an effective method ofbirth control during the first 6 months post treatment.\n- negative pregnancy test in women with childbearing potential (a woman who istwo years post-menopausal or surgically sterile is not considered to be ofchildbearing potential)\n- 6-12 years of age\n- ≥ 18 years of age\n- bi-allelic pathogenic or likely pathogenic mutation in CNGA3\n- BCVA ≥ 20/400\n- a minimal outer nuclear layer thickness of 10μm at 3° eccentricity (normal =38±6μm)\n- ability to understand and willingness to consent to study protocol\n- no infection with Human Immundeficiency Virus (HIV)\n- Male patients must agree to use condoms during the first 6 months post treatment."}

Exclusion criteria

• {"criterion_text":"- any other retinopathy due to other diseases e.g. (but not limited to) arterialhypertension, trauma or acquired inflammatory diseases (uveitis serology) ,retinopathy of the premature\n- causal mutations in other genes for hereditary retinal diseases\n- contraindications in view of the planned surgery (e.g. anaemia Hb<8g/dl, severecoagulopathy, severe blood pressure fluctuations) including intolerance andcontraindications to general anaesthesia\n- ocular opacity and mature cataract\n- ocular infection with herpes simplex virus in medical history\n- history of ocular malignancies\n- disorders of the inner retina (e.g. retinal vascular occlusions in the patients history)\n- glaucoma defined as damage of the optic nerve\n- history of poorly controlled (HbA1c > 7%) Diabetes Mellitus type 1 or type 2\n- patients treated with systemic corticoids within 14 days prior inclusion\n- systemic illness or medically significant abnormal laboratory values >3 UNL in bloodanalysis including renal and hepatic functions at inclusion\n- systemic conditions (e.g. coronary heart disease, congenital/genetic conditions,autoimmune disorders) which may affect study participation or outcome measures\n- absence of vision on the contralateral eye\n- contraindication to pharmacological mydriasis (e.g. history of angle blockglaucoma)\n- current or recent participation in other study or administration of biologic agentwithin the last three months\n- recent (within the last 6 months) ocular surgery, intravitreal or subretinalimplantation of a medical device\n- known sensitivity to any compound used in the study\n- contraindications to systemic immunosuppression\n- subject/partner of childbearing potential unwilling to use adequate contraceptionfor six months after dosing\n- nursing or pregnant female subject\n- any other cause that, in the investigator‘s opinion, renders potential subjects notsuitable for the study"}

Primary endpoints

• {"endpoint_text":"- Contrast sensitivity (Pelli Robson 3 m) 6 months after treatment","definition_or_measurement_approach":"Measured as Contrast sensitivity using the Pelli-Robson chart at 3 m, assessed 6 months after treatment."}

Secondary endpoints

• {"endpoint_text":"- Contrast sensitivity (Pelli Robson 3 m)","definition_or_measurement_approach":"Measured as Contrast sensitivity using the Pelli-Robson chart at 3 m."}
• {"endpoint_text":"- BCVA assessed using the ETDRS visual acuity protocol","definition_or_measurement_approach":"Best corrected visual acuity assessed using ETDRS protocol."}
• {"endpoint_text":"- FrACT (Freiburg Visual Acuity & Contrast Test)","definition_or_measurement_approach":"Measured using the FrACT visual acuity and contrast test."}
• {"endpoint_text":"- Roth FM28 sat","definition_or_measurement_approach":"Assessment using Roth FM28 saturation test (color/contrast assessment)."}
• {"endpoint_text":"- VA-CAL (Visual acuity under different conditions of contrast and ambient light)","definition_or_measurement_approach":"Assessment of visual acuity under varying contrast and ambient light conditions using VA-CAL."}
• {"endpoint_text":"- Patient reported outcomes (VFQ25/CVFQ, A3-PRO)","definition_or_measurement_approach":"Patient-reported outcome instruments including VFQ-25/CVFQ and A3-PRO."}
• {"endpoint_text":"- Electroretinography","definition_or_measurement_approach":"Electroretinography (ERG) recordings to assess retinal function."}
• {"endpoint_text":"- Chromatic pupil campimetry (CPC) cone protocol – exploratory - functional","definition_or_measurement_approach":"Chromatic pupil campimetry using cone protocol to assess functional response (noted as exploratory)."}

Other endpoints

• {"endpoint_text":"- Chromatic pupil campimetry (CPC) cone protocol – exploratory - functional","definition_or_measurement_approach":"Exploratory functional assessment by chromatic pupil campimetry (CPC) using Cone protocol."}

Germany

Earliest CTIS Part Ii Submission Date

18-06-2024

Latest Decision Or Authorization Date

16-07-2024

Processing Time Days

28

Number Of Sites

1

Number Of Participants

14

Primary sponsor

Full Name

Universitaetsklinikum Tuebingen AöR

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Germany