Yükleniyor... / Loading...
Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia
Bu çalışma, CNGA3 genindeki mutasyonlara bağlı akromatopsi (achromatopsia, kalıtsal renk körlüğü hastalığı) olan hastalarda rAAV.hCNGA3 adlı bir gen terapisinin güvenliğini ve etkinliğini değerlendirmektedir. Çalışmaya, akromatopsi tanısı olan ve CNGA3 geninde doğrulanmış mutasyon bulunan hastalar alınmaktadır. Çalışma Faz 1/Faz 2 aşamasında olup, şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
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)