New and Emerging Drug and Gene Therapies for Friedreich Ataxia.
Varlli ScottMartin B DelatyckiGeneieve TaiLouise A CorbenPublished in: CNS drugs (2024)
The life shortening nature of Friedreich Ataxia (FRDA) demands the search for therapies that can delay, stop or reverse its relentless trajectory. This review provides a contemporary position of drug and gene therapies for FRDA currently in phase 1 clinical trials and beyond. Despite significant scientific advances in the specificity of both compounds and targets developed and investigated, challenges remain for the advancement of treatments in a limited recruitment population. Currently therapies focus on reducing oxidative stress and improving mitochondrial function, modulating frataxin controlled metabolic pathways and gene replacement and editing. Approval of omaveloxolone, the first treatment for individuals with FRDA aged 16 years and over, has created much excitement for both those living with FRDA and those that care for them. The process of approval of omaveloxolone by the US Food and Drug Administration highlighted the importance of sensitive outcome measures and the significant role of data from natural history studies.
Keyphrases
- drug administration
- clinical trial
- copy number
- oxidative stress
- genome wide
- genome wide identification
- early onset
- palliative care
- dna damage
- emergency department
- chronic pain
- quality improvement
- dna methylation
- pain management
- risk assessment
- deep learning
- transcription factor
- machine learning
- phase ii
- study protocol
- climate change
- open label
- artificial intelligence
- smoking cessation
- endoplasmic reticulum stress
- induced apoptosis