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Stargardt Disease
Stargardt disease is the most common inherited single-gene retinal disease
Prevalence
Age of Onset
ICD-10
H35.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner.†
5 Facts you should know
FACT
A genetic eye disorder that causes progressive vision loss
FACT
Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula
FACT
The main symptom is loss of visual acuity, uncorrectable with glasses
FACT
People with Stargardt disease also have problems with night vision, and some have problems with color vision
FACT
It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner
Interest over time
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Common signs & symptoms
Reduced visual acuity
Decreased clarity of vision
Abnormal choroid morphology
Abnormal foveal morphology
Abnormality of macular pigmentation
Abnormality of visual evoked potentials
Central scotoma
Central blind spot
Current treatments
At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA).[6] You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.[6]
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| Open-Label Extension: Tolerability and Effects of ALK-001 on Stargardt Disease (TEASE) | The purpose of this open-label, multicenter study is to determine the long-term safety, pharmacokinetics and effects of ALK-001 (C20-D3-retinyl acetate) on the progression of Stargardt disease. This study is an extension of NCT02402660 and enrolls participants who are at least 8 years old. Enrollment is by invitation only. | Phase 2 | Enrolling by invitation | Drug: ALK-001 | Click here for more information |
| Safety and Efficacy of Emixustat in Stargardt Disease | The purpose of this study is to determine if emixustat hydrochloride reduces the rate of progression of macular atrophy compared to placebo in subjects with Stargardt disease. | Phase 3 | Active, not recruiting | Drug: Emixustat|Drug: Placebo | Click here for more information |
| Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1) | To evaluate the safety and efficacy of Zimura™ (complement factor C5 inhibitor) compared to Sham in subjects with autosomal recessive Stargardt disease 1 (STGD1). | Phase 2 | Recruiting | Drug: Zimura|Other: Sham | Click here for more information |
| Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease | The purpose of this study is to determine the long term safety and tolerability of ALK-001 (C20-D3-retinyl acetate), and to explore the effects of ALK-001 on the progression of Stargardt disease in patients between the ages of 8 and 70 years old. | Phase 2 | Recruiting | Drug: ALK-001|Drug: Placebo | Click here for more information |
Top Treatments in Research
| Agent | Class/Mechanism of Action | Development Status | Company | Clinical Studies | More Information |
|---|---|---|---|---|---|
| STG-001 | STG-001 slows down accumulation of toxic retinoids in the eye. The visual cycle is fueled by uptake of retinol from circulation, which is transported by Retinol Binding Protein 4 (RBP4), a key protein that binds Vitamin A (retinol) in the systemic circulation and delivers it to the eye. STG-001 is an indirect visual cycle modulator and by reducing plasma concentrations of RBP4 slows down the visual cycle and accumulation of cytotoxic retinoids in the eye. | Phase 2 | Stargazer Pharmaceuticals, Inc. | Click here for more information | Click here for more information |
| Emixustat | Emixustat modulates the visual cycle by inhibiting a critical enzyme of this pathway, Retinal pigment epithelium-specific 65 kDa protein (RPE65). Slowing the visual cycle reduces the availability of vitamin A derivatives (11-cis- and all-trans-retinal) to form precursors of A2E and related compounds. In animal models of Stargardt disease and retinal degeneration, emixustat was found to decrease the accumulation of A2E and to protect the retina from light-induced damage. | Phase 3 | Kubota Vision Inc. | Click here for more information | Click here for more information |
| Zimura | Zimura is an investigational complement C5 inhibitor that is designed to decrease the activation of inflammasomes and the formation of membrane attack complex (MAC). The Company believes Zimura could treat geographic atrophy secondary to dry AMD by preventing or slowing the degeneration of retinal pigment epithelial cells. | Phase 2 | IVERIC bio, Inc. | Click here for more information | Click here for more information |
| ALK-001 | ALK-001 is vitamin A modified by replacing hydrogen with deuterium, a stable, non-radioactive isotope of hydrogen. Substituting vitamin A with ALK-001 safely slows the rate of formation of vitamin A dimers and prevents the disease in mice. | Phase 2 | Alkeus Pharmaceuticals, Inc. | Click here for more information | Click here for more information |
† National Eye Institute