Recent advances in Wilson disease

Area of Science:

• Hepatology
• Genetics
• Neurology

Background:

• Wilson disease (WD) is a rare genetic disorder with diverse clinical presentations, complicating diagnosis and management.
• Current treatments for WD require lifelong adherence, highlighting the need for improved monitoring and personalized therapeutic strategies.
• Unmet needs persist for WD patients, driving research into novel diagnostic and therapeutic approaches.

Purpose of the Study:

• To review recent advancements in the diagnosis, current treatments, and future therapeutic potential for Wilson disease.
• To discuss evolving methodologies for early detection, including ophthalmologic and neuroimaging techniques, and novel blood-based diagnostics.
• To explore strategies for enhancing treatment adherence and outcomes, alongside emerging therapies like gene therapy and novel chelators.

Main Methods:

• Review of recent literature on diagnostic methodologies for Wilson disease.
• Analysis of current therapeutic strategies, including chelation therapy and zinc compounds.
• Examination of pre-clinical and clinical studies on novel therapeutic agents and gene therapy approaches.

Main Results:

• New diagnostic tools are emerging for ophthalmologic signs, neurological involvement via brain imaging, and blood-based screening applicable to newborns and adults.
• Strategies to improve adherence, such as once-daily chelation, and comparisons of zinc salt efficacy are being investigated.
• Promising new therapies include Bis-choline tetrathiomolybdate (TTM), methanobactin, and gene therapy using adeno-associated vectors (AAVs) targeting the ATP7B gene.

Conclusions:

• Advances in diagnostic techniques and monitoring of copper levels offer potential for earlier and more personalized WD management.
• Novel therapeutic strategies, including gene therapy and new chelators, show promise for future WD treatment, potentially leading to cures.
• Continued research is crucial for addressing unmet needs and improving the long-term outcomes for Wilson disease patients.