Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia

• Status: Recruiting
• Trial end date: 2027-04-01
• Target enrollment: 0
• Participant gender: All

Summary

The purpose of this study is to proof the safety and efficacy of a single bilateral subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: STZ eyetrial
• Collaborators: Ludwig-Maximilians - University of Munich; University Hospital Tuebingen

Criteria

Inclusion Criteria (Both Eyes)

• clinical diagnosis of achromatopsia

• 6-12 years of age

• ≥ 18 years of age

• confirmed 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.

• Female patients of childbearing potential must agree to use an effective method of birth control during the first 6 months post treatment.

• negative pregnancy test in women with childbearing potential (a woman who is two years post-menopausal or surgically sterile is not considered to be of childbearing potential)

Exclusion Criteria

• any other retinopathy due to other diseases e.g. (but not limited to) arterial hypertension, trauma or acquired inflammatory diseases (uveitis serology) , retinopathy of the premature

• systemic conditions (e.g. coronary heart disease, congenital/genetic conditions, autoimmune disorders) which may affect study participation or outcome measures

• current or recent participation in other study or administration of biologic agent within the last three months

• recent (6 months) ocular surgery, intravitreal or subretinal implantation 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 contraception for six months after dosing

• nursing or pregnant female subject women

• any other cause that, in the investigator's opinion, renders potential subjects not suitable for the study

• mutations in another achromatopsia gene

• contraindications in view of the planned surgery (e.g. anaemia Hb<8g/dl, severe coagulopathy, severe blood pressure fluctuations) including intolerance and contraindications to general anaesthesia

• ocular opacity and mature cataract

• ocular infection with herpes simplex virus in medical history

• history of ocular malignancies

• disorders of the internal retina (e.g. retinal detachment in the patients history)

• glaucoma defined as damage of the optic nerve

• vascular retinal occlusion

• 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 blood analysis including renal and hepatic functions at inclusion

• absence of vision on the other contralateral eye

• contraindication to pharmacological mydriasis (e.g. history of angle block glaucoma)