Klinické zkoušky testující nové terapie pro Stargardtovu chorobu
[Clinical Tests Testing New Therapies for Stargardt Disease]
Language Czech Country Czech Republic Media print
Document type Journal Article, Review
PubMed
27041285
PII: 57781
- MeSH
- ATP-Binding Cassette Transporters genetics MeSH
- Cell- and Tissue-Based Therapy MeSH
- Genetic Therapy * MeSH
- Genotype MeSH
- Clinical Trials as Topic MeSH
- Humans MeSH
- Macular Degeneration congenital diagnosis genetics therapy MeSH
- Mutation MeSH
- DNA Mutational Analysis MeSH
- Retinal Pigment Epithelium pathology MeSH
- Stargardt Disease MeSH
- Stem Cell Transplantation * MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Names of Substances
- ATP-Binding Cassette Transporters MeSH
- ABCA4 protein, human MeSH Browser
PURPOSE: To provide information on currently ongoing clinical trials for Stargardt disease. METHODS: We have searched the clinical trial register (www.clinicaltrials.gov) for the keyword "Stargardt" and list active ongoing studies. RESULTS: There are currently eight registered clinical trials enrolling patients with Stargardt disease; all in phase I or II aiming at four mechanisms of action: inhibition of the production of vitamin A toxic dimers, gene therapy restoring wild type transcription of the ABCA4 gene, neuroprotection preventing retinal cells from oxidative damage, and replacement of the damaged retinal pigment epithelium using stem cell therapy. The basic prerequisite for enrolment in the vast majority of clinical trials is confirmation of the clinical diagnosis by mutational analysis. CONCLUSION: The wide variety of therapies that are registered as clinical trials for Stargardt disease significantly raises the possibility that effective treatments will be available in the near future for this currently incurable condition and that molecular genetic testing should be increasingly considered. KEY WORDS: Stargardt disease, clinical trial, ABCA4, mutation.