Principal Investigator: Paul Bernstein
Keywords: Eye disease of retina , Genetic eye disease , Drug therapy Department: Ophthalmology-Services
IRB Number: 00108609
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Active, not recruiting

Contact Information

Kimberley Wegner

Simple Summary

To evaluate the safety and efficacy of the study drug in patients with Stargardt Disease

Inclusion Criteria

Ophthalmic Inclusion Criteria

The following inclusion criteria apply to the study eye:

  1. At least two pathogenic mutations of ABCA4 gene confirmed by a CLIA-certified laboratory.
  2. Best corrected visual acuity in the study eye between 20/20 - 20/200 Snellen equivalent, inclusive.
  3. Presence of at least one identifiable location of at least 250 micrometers contiguous width of ellipsoid zone loss on SD-OCT within the total 9 ETDRS subfields.
  4. The total area of thinned layer(s) on OCT not extending beyond the outer ring of the total 9 ETDRS subfields (e.g. not extending beyond fields 5-9).
  5. Fundus autofluorescence may show heterogeneous signals (areas of increased and/or decreased autofluorescence) but no area of subfoveal definitely decreased autofluorescence (DDAF).
  6. Clear ocular media and adequate pupillary dilatation in both eyes (OU) to allow for all imaging procedures, including good quality stereoscopic fundus photography, fundus autofluorescence, and spectral domain ocular coherence tomography.
  7. Intraocular pressure of 21 mmHg or less in the study eye.


General Inclusion Criteria

  1. Subjects of either gender aged between 18 and 50 years, inclusive: female partner of a male participant who becomes pregnant, and her child; child of a female participant who became pregnant.
  2. Women must be using two forms of effective contraception, be post-menopausal for at least 12 months prior to trial entry, or surgically sterile; if of child-bearing potential, a serum pregnancy test must be performed within 14 days prior to the first injection with a negative result. The two forms of effective contraception must be implemented during the trial and for at least 90 days following the last dose of test medication. Male subjects should use a condom during the time of study drug exposure and for 90 days following last exposure of study drug.
  3. Provide written informed consent.
  4. Ability to return for all trial visits.

Exclusion Criteria

Ophthalmic Exclusion Criteria

The following exclusion criteria apply to the Study Eye (SE) unless otherwise noted:

  1. Macular atrophy secondary to any condition other than STGD1 in either eye (e.g., drug-induced).
  2. Any prior treatment for STGD1 including gene therapy, stem cell therapy or any prior intravitreal treatment for any indication in either eye.
  3. Participation in an interventional study of a vitamin A derivative ≤ 3 months prior to screening.
  4. Any ocular condition in the study eye that would progress during the course of the study that could affect central vision, microperimetry testing or otherwise be a confounding factor.
  5. Concomitant treatment with any ocular or systemic medication that is known to be toxic to the lens, retina or optic nerve.
  6. Presence of intraocular inflammation (≥ trace cell or flare), macular hole, pathologic myopia (spherical equivalent of -8 diopters or more negative, or axial length of 25mm or more), epiretinal membrane, evidence of significant vitreo-macular traction, vitreous hemorrhage or aphakia (pseudophakia with or without an intact capsule is not an exclusion criteria).
  7. Presence or history of idiopathic or autoimmune-associated uveitis in either eye.
  8. Significant media opacities, including cataract, which might interfere with visual acuity, assessment of toxicity, fundus photography or fundus autofluorescence.  Subjects should not be entered if there is likelihood that they will require cataract surgery in the study eye during the study.
  9. Any intraocular surgery or thermal laser within 3 months of trial entry. Any prior thermal laser in the macular region, regardless of indication.
  10. Any ocular or periocular infection or ocular surface inflammation in the past 12 weeks.
  11. History of any of the following procedures: Posterior vitrectomy, filtering surgery (e.g. trabeculectomy), glaucoma drainage device, corneal transplant or retinal detachment.

    General Exclusion Criteria

  12. Any of the following underlying diseases including:
    1. Diabetes mellitus (regardless of HbA1c level)
    2. HbA1c value of ≥6.5%*: If the HbA1c value is ≥ 6.5% and ≤ 6.9%, and the patient has no signs or symptoms of diabetes mellitus, has a normal creatinine, has no diabetic retinopathy and no glycosuria, then the patient may have an oral glucose tolerance test (OGTT) at the discretion of the investigator. If the 2-hour glucose value on OGTT is <200 mg/dL (<11.1mmol/L), then the patient may be enrolled.1
    3. History of other disease, metabolic dysfunction, physical examination finding or clinical laboratory finding giving reasonable suspicion of a disease or condition that contraindicates the use of an investigational drug or that might affect interpretation of the results of the study or render the subject at high risk for treatment complications.
    4. History or evidence of severe cardiac disease (eg, New York Heart Association (NYHA) Functional Class III or IV - see Appendix 17.5), history or clinical evidence of unstable angina, acute coronary syndrome, myocardial infarction or revascularization within last 6 months, ventricular tachyarrhythmia requiring ongoing treatment.
    5. Subjects with a clinically significant laboratory value. Laboratory tests may be repeated once before randomization.
    6. Stroke within 12 months of trial entry.
    7. Any major surgical procedure within one month of trial entry or anticipated during the trial which may interrupt trial participation.
  13. Previous therapeutic radiation in the region of the study eye.
  14. Any treatment with an investigational agent in the past 60 days for any condition.
  15. Women who are pregnant or nursing.
  16. Known serious allergies to the fluorescein dye used in angiography, povidone iodine, or to the components of the Zimura™ formulation.
  17. History of systemic treatment with any complement inhibitor agent in the past or the likelihood of treatment with any systemic complement inhibitor agent during the study.

Participant Reimbursement

Participants will be paid $75 for each protocol required visit up to a total maximum of $1,725 to complete all 23 visits over 18 months