Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Marina StavrouIrene SargiannidouElena GeorgiouMatthew J JenningsKleopas A KleopaPublished in: International journal of molecular sciences (2021)
Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically heterogeneous disorders affecting the peripheral nerves, causing significant and slowly progressive disability over the lifespan. The discovery of their diverse molecular genetic mechanisms over the past three decades has provided the basis for developing a wide range of therapeutics, leading to an exciting era of finding treatments for this, until now, incurable group of diseases. Many treatment approaches, including gene silencing and gene replacement therapies, as well as small molecule treatments are currently in preclinical testing while several have also reached clinical trial stage. Some of the treatment approaches are disease-specific targeted to the unique disease mechanism of each CMT form, while other therapeutics target common pathways shared by several or all CMT types. As promising treatments reach the stage of clinical translation, optimal outcome measures, novel biomarkers and appropriate trial designs are crucial in order to facilitate successful testing and validation of novel treatments for CMT patients.
Keyphrases
- cell therapy
- small molecule
- stem cells
- clinical trial
- multiple sclerosis
- end stage renal disease
- study protocol
- genome wide
- newly diagnosed
- ejection fraction
- protein protein
- prognostic factors
- chronic kidney disease
- copy number
- gene expression
- patient reported outcomes
- dna methylation
- replacement therapy
- single cell
- transcription factor