Safety and efficacy of a bilateral single subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia investigated in a randomized, wait list controlled, observer-masked trial
- Conditions
- CNGA3-linked achromatopsia
- Registration Number
- 2024-515553-17-00
- Lead Sponsor
- Universitaetsklinikum Tuebingen AöR
- Brief Summary
To proof the safety and efficacy of rAAV.hCNGA3 in patients with achromatopsia if applied bilaterally in adults and minors.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Ongoing, recruitment ended
- Sex
- Not specified
- Target Recruitment
- 14
clinical diagnosis of achromatopsia
Female patients of childbearing potential must agree to use an effective method ofbirth control during the first 6 months post treatment.
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)
6-12 years of age
≥ 18 years of age
bi-allelic pathogenic or likely pathogenic mutation in CNGA3
BCVA ≥ 20/400
a minimal outer nuclear layer thickness of 10μm at 3° eccentricity (normal =38±6μm)
ability to understand and willingness to consent to study protocol
no infection with Human Immundeficiency Virus (HIV)
Male patients must agree to use condoms during the first 6 months post treatment.
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
causal mutations in other genes for hereditary retinal diseases
contraindications in view of the planned surgery (e.g. anaemia Hb<8g/dl, severecoagulopathy, severe blood pressure fluctuations) including intolerance andcontraindications to general anaesthesia
ocular opacity and mature cataract
ocular infection with herpes simplex virus in medical history
history of ocular malignancies
disorders of the inner retina (e.g. retinal vascular occlusions in the patients history)
glaucoma defined as damage of the optic nerve
history of poorly controlled (HbA1c > 7%) Diabetes Mellitus type 1 or type 2
patients treated with systemic corticoids within 14 days prior inclusion
systemic illness or medically significant abnormal laboratory values >3 UNL in bloodanalysis including renal and hepatic functions at inclusion
systemic conditions (e.g. coronary heart disease, congenital/genetic conditions,autoimmune disorders) which may affect study participation or outcome measures
absence of vision on the contralateral eye
contraindication to pharmacological mydriasis (e.g. history of angle blockglaucoma)
current or recent participation in other study or administration of biologic agentwithin the last three months
recent (within the last 6 months) ocular surgery, intravitreal or subretinalimplantation of a medical device
known sensitivity to any compound used in the study
contraindications to systemic immunosuppression
subject/partner of childbearing potential unwilling to use adequate contraceptionfor six months after dosing
nursing or pregnant female subject
any other cause that, in the investigator‘s opinion, renders potential subjects notsuitable for the study
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Contrast sensitivity (Pelli Robson 3 m) 6 months after treatment Contrast sensitivity (Pelli Robson 3 m) 6 months after treatment
- Secondary Outcome Measures
Name Time Method FrACT (Freiburg Visual Acuity & Contrast Test) FrACT (Freiburg Visual Acuity & Contrast Test)
Roth FM28 sat Roth FM28 sat
Contrast sensitivity (Pelli Robson 3 m) Contrast sensitivity (Pelli Robson 3 m)
BCVA assessed using the ETDRS visual acuity protocol BCVA assessed using the ETDRS visual acuity protocol
VA-CAL (Visual acuity under different conditions of contrast and ambient light) VA-CAL (Visual acuity under different conditions of contrast and ambient light)
Patient reported outcomes (VFQ25/CVFQ, A3-PRO) Patient reported outcomes (VFQ25/CVFQ, A3-PRO)
Electroretinography Electroretinography
Chromatic pupil campimetry (CPC) cone protocol – exploratory - functional Chromatic pupil campimetry (CPC) cone protocol – exploratory - functional
Trial Locations
- Locations (1)
Universitaetsklinikum Tuebingen AöR
🇩🇪Tuebingen, Germany
Universitaetsklinikum Tuebingen AöR🇩🇪Tuebingen, GermanyKatarina StinglSite contact070712987421Katarina.Stingl@med.uni-tuebingen.de