Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 259
- 试验地点
- 9
- 主要终点
- Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images
研究概览
简要总结
Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enormous morbidity with economic, psychological, emotional, and social implications. There are no FDA approved therapeutic treatments for this disease. Therefore, the objective of this study is to collect natural history data from a large population of children and adults in order to evaluate possible efficacy measures for planned clinical trials.
Participants will be recruited from each Investigator's own patient population as the study requires the availability of both multiyear retrospective data, as well as ongoing prospectively collected data. A concurrent ancillary study (SMART study) is also being conducted with a subset of the prospective study patients during their regular ProgSTAR study visits to expand the collection of retinal images to include microperimetry measurements gathered under scotopic (low light) conditions.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 6 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Provide a signed informed consent form and authorization allowing the disclosure and use of protected health information.
- •The designated primary study eye must have at least one well-demarcated area of atrophy as imaged by fundus autofluorescence with a minimum diameter of 300 microns and all lesions together must add to less than or equal to 12 mm2 (equivalent to no more than 5 disc areas in a least one eye) and a BCVA of 20 ETDRS letters (20/400 Snellen equivalent) or better.
- •Two (2) pathogenic mutations confirmed present, in the ABCA4 gene. If only one ABCA4 allele contains a pathogenic mutation, the patient shall have a typical Stargardt phenotype, namely at least one eye must have flecks at the level of the retinal pigment epithelium typical for STGD.
- •The primary study eye must have clear ocular media and adequate pupillary dilation to permit good quality fundus autofluorescence (FAF) and Spectral-Domain optical coherence tomography (sd-OCT) imaging in the opinion of the investigator.
- •Be able to cooperate in performing the examinations.
- •Be willing to undergo ocular examinations once every 6 months for up to 24 months.
- •Be at least six years old.
- •Both eyes can be included if inclusion criteria are fulfilled for both eyes.
排除标准
- •Ocular disease, such as choroidal neovascularization, glaucoma and diabetic retinopathy, in either eye that may confound assessment of the retina morphologically and functionally.
- •Intraocular surgery in the primary study eye within 90 days prior to baseline visit.
- •Current or previous participation in an interventional study to treat STGD such as gene therapy or stem cell therapy. Current participation in a drug trial or previous participation in a drug trial within six months before enrollment. The use of oral supplements of vitamins and minerals are permitted although the current use of Vitamin A supplementation shall be documented.
- •The site Principal Investigator may declare any patient at their site ineligible to participate in the study for a sound medical reason prior to the patient's enrollment into the study.
- •Any systemic disease with a limited survival prognosis (e.g. cancer, severe/unstable cardiovascular disease).
- •Any condition that would interfere with the patient attending their regular follow-up visits every 6 months for up to 24 months, e.g. personality disorder, use of major tranquilizers such as Haldol or Phenothiazine, chronic alcoholism, Alzheimer's Disease or drug abuse.
- •Evidence of significant uncontrolled concomitant diseases such as cardiovascular, neurological, pulmonary, renal, hepatic, endocrine or gastro-intestinal disorders.
结局指标
主要结局
Yearly Progression Rate of Atrophic Lesions Using Fundus Autofluorescence (FAF) Images
时间窗: 2-12 years
Yearly increase in area of decreased auto-fluorescence (DAF) which is defined as the sum of definite and questionable decreased auto-fluorescence
次要结局
- Difference in the Rate of Retinal Sensitivity Change Per Year Between Photopic and Scotopic Micro-perimetry Testing(2 years)
- Yearly Rate of Loss of Retinal Sensitivity as Measured by Scotopic Microperimetry (MP)(2 years)
- Yearly Rate of Loss of Overall Retinal Thickness(Participants followed at Baseline, 6 months, 12 months and 24 months)
- Yearly Rate of Loss of the Inner Ring Retinal Thickness(Participants followed at Baseline, 6 months, 12 months and 24 months)
- Yearly Rate of Loss of the Central Ring Retinal Thickness(Participants followed at Baseline, 6 months, 12 months and 24 months)
- Yearly Rate of Visual Acuity Loss(2-12 years)
- Yearly Rate of Loss of Outer Ring Retinal Thickness(Participants followed at Baseline, 6 months, 12 months and 24 months)