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Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia

This study is ongoing, but not recruiting participants.
University Hospital Tuebingen
Ludwig-Maximilians - University of Munich
Information provided by (Responsible Party):
STZ eyetrial Identifier:
First received: September 18, 2015
Last updated: May 3, 2017
Last verified: May 2017
The purpose of this study is to proof the safety and efficacy of a single subretinal injection of rAAV.hCNGA3 in patients with CNGA3-linked achromatopsia.

Condition Intervention Phase
Achromatopsia Drug: rAAV.hCNGA3 Phase 1 Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Masking Description:
open label
Primary Purpose: Treatment
Official Title: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Investigated in an Exploratory, Dose-escalation Trial

Resource links provided by NLM:

Further study details as provided by STZ eyetrial:

Primary Outcome Measures:
  • Safety (AE). Number of Participants With Abnormal Laboratory Values and/or Adverse Events That Are Related to Treatment [ Time Frame: Day 0 - Day 365 ]
    Safety as the primary endpoint will be assessed by clinical examination of ocular inflammation (slit lamp, fundus biomicroscopy, angiography, perimetry or electrophysiology). Systemic safety will be assessed by vital signs, routine clinical chemistry testing (including C reactive protein, ESR) and full/differential blood counts. Immunopathology essays will include specific enzyme-linked immunosorbent assays for humoral antibodies against rAAV8 capsid protein and/or CNGA3 gene product and specific enzyme-linked immunosorbent spot assays to monitor cellular immune reactivity against rAAV8 capsid protein and/or CNGA3 gene product. Biodistribution will be monitored by polymerase chain reaction studies on rAAV8 genome in blood, urine, saliva and lachrymal fluid.

Secondary Outcome Measures:
  • Efficacy measures. Number of Participants With improved Visual Function. [ Time Frame: Day 14 - Day 365 ]
    Efficacy data (improvement in visual function) and patient reported outcomes will be investigated exploratively as well as retinal imaging. They are all secondary endpoints in this trial.

Estimated Enrollment: 9
Study Start Date: November 2015
Estimated Study Completion Date: November 2017
Estimated Primary Completion Date: November 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Single Arm

dose escalation rAAVhCNGA3

  1. low dose: ≤ 1x10e10 vgp (n=3)
  2. intermediate dose: ≤ 5x10e10 vgp (n=3)
  3. high dose: ≤ 1x10e11 vgp (n=3)
Drug: rAAV.hCNGA3
Single subretinal injection of rAAV.hCNGA3

  Show Detailed Description


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • clinical diagnosis of achromatopsia
  • ≥ 18 years of age
  • confirmed mutation in CNGA3
  • BCVA ≥ 20/400
  • a minimal outer nuclear layer thickness of 10µm at 3° eccentricity in the study eye (normal = 38±6µm)
  • ability to understand and willingness to consent to study protocol
  • no infection with Human Immunodeficiency Virus (HIV)
  • 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:

  • additional interfering eye conditions (e.g. uveitis, advanced cataract) in the study eye
  • systemic conditions (e.g. coronary heart disease, 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 four months
  • nursing or pregnant 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)
  • ocular opacity and mature cataract
  • 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
  • diabetic patients suffering from retinopathy and/or macula edema
  • patients treated with oral corticoids within 14 days prior inclusion
  • systemic illness or medically significant abnormal laboratory values in blood analysis including renal and hepatic functions at inclusion
  • absence of vision on the other contralateral eye
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02610582

University Hospital Tuebingen, Center for Ophthalmology
Tuebingen, Germany, 72076
Sponsors and Collaborators
STZ eyetrial
University Hospital Tuebingen
Ludwig-Maximilians - University of Munich
Principal Investigator: Dominik Fischer, Prof. University Hospital Tuebingen, Center for Ophthalmology
  More Information

Responsible Party: STZ eyetrial Identifier: NCT02610582     History of Changes
Other Study ID Numbers: RDC-CNGA3-01
2014-001874-32 ( EudraCT Number )
096/2015 AMG1 ( Other Identifier: Ethics Committee Tübingen )
Study First Received: September 18, 2015
Last Updated: May 3, 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by STZ eyetrial:

Additional relevant MeSH terms:
Color Vision Defects
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Eye Diseases
Signs and Symptoms processed this record on September 21, 2017