Safety and efficacy of a bilateral, single injection of a genetically modified virus particle under the retina in adults and children with achromatopsia (an eye disease caused by a defect in the genetic material), investigated in a clinical trial.

Phase 1

• Conditions: CNGA3-linked achromatopsia; MedDRA version: 20.0Level: LLTClassification code 10000454Term: AchromatopsiaSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Eye Diseases [C11]

• Registration Number: EUCTR2014-001874-32-DE
• Lead Sponsor: niversitätsklinikum Tübingen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2015-02-16
• Last Update Posted: 22 July 2024

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 14

Inclusion Criteria

•clinical diagnosis of achromatopsia
•6-12 years of age
•= 18 years of age
•bi-allelic pathogenic or likely pathogenic mutations 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)

Are the trial subjects under 18? yes
Number of subjects for this age range: 6
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 8
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

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 (within the last 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
•any other cause that, in the investigator‘s opinion, renders potential subjects not suitable for the study
•causal mutations in other genes for hereditary retinal diseases
•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 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 blood analysis including renal and hepatic functions at inclusion
•absence of vision on the contralateral eye
•contraindication to pharmacological mydriasis (e.g. history of angle block glaucoma)

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified