Klinické zkoušky testující nové terapie pro Stargardtovu chorobu
[Clinical Tests Testing New Therapies for Stargardt Disease]
Jazyk čeština Země Česko Médium print
Typ dokumentu časopisecké články, přehledy
PubMed
27041285
PII: 57781
- MeSH
- ABC transportéry genetika MeSH
- buněčná a tkáňová terapie MeSH
- genetická terapie * MeSH
- genotyp MeSH
- klinické zkoušky jako téma MeSH
- lidé MeSH
- makulární degenerace vrozené diagnóza genetika terapie MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- retinální pigmentový epitel patologie MeSH
- Stargardtova nemoc MeSH
- transplantace kmenových buněk * MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- ABC transportéry MeSH
- ABCA4 protein, human MeSH Prohlížeč
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.