Cure – aHUS Agenda Topic 9

A cure for aHUS would mean an individual would be at no risk of the disease again. Patients ask

Will there be a cure aHUS eventually?

So we asked our expert and were told:

“The quest for a cure for atypical hemolytic uremic syndrome (aHUS) is an active area of research, but as of my best knowledge, a definitive cure for aHUS had not been identified. aHUS is a complex and multifactorial condition with genetic and immunological factors that contribute to its development, making it challenging to find a single, universal cure.

That said, there have been significant advancements in the understanding of aHUS, and treatment options, such as complement inhibitors, have improved the management of the condition. Research continues into potential curative approaches, such as gene therapy and targeted complement system modulation.

While a complete cure for aHUS may not be available yet, ongoing research and medical advancements offer hope for better treatments and improved quality of life for individuals with aHUS. It’s important for aHUS patients to work closely with healthcare professionals and stay informed about the latest developments in the field.

What would gene therapy for aHUS involve?

Gene therapy for aHUS is an emerging area of research, and its development involves several key steps:

  1. Gene Identification: First, researchers identify the specific genetic mutations responsible for aHUS in an individual. This requires comprehensive genetic testing to pinpoint the exact genetic variations contributing to the condition.
  2. Gene Modification: In gene therapy, the goal is to modify or replace the faulty genes responsible for aHUS. Several approaches can be used, such as introducing functional genes or repairing mutations.
  3. Delivery Method: Researchers develop delivery systems to transport the modified genes into the patient’s cells. These delivery methods can include viral vectors, nanoparticles, or other techniques.
  4. Clinical Trials: Before gene therapy is widely used, it undergoes extensive testing in clinical trials to ensure its safety and effectiveness. These trials involve carefully selected patients and monitoring for therapeutic outcomes and potential side effects.
  5. Regulatory Approval: After successful clinical trials, gene therapy must receive regulatory approval from agencies such as the FDA in the United States or the EMA in the European Union before becoming a standard treatment option.
  6. Treatment Administration: Once approved, gene therapy is administered to patients. This typically involves a one-time or infrequent treatment, depending on the specific approach used.

Gene therapy holds great promise for aHUS as it addresses the underlying genetic causes of the condition. It has the potential to provide a more permanent solution compared to current treatments like complement inhibitors. However, it’s still an evolving field, and ongoing research is needed to refine the technology and broaden its application for aHUS and other genetic disorders.”

Many of the complement components involved in the disease are manufactured in the liver but not all. So for some patients the process would involve changing the way that the liver produces these component so they work properly i.e. by changing the specific genetic errors in each of them.

There have a hundreds of errors identified in just CFH alone so far so each will have to be changed individually. For example in this mutation of one part of CFH  c.3643C>G; p. Arg1215Gly the liver would need altering so that the “Arg” swaps back with the “Gly”,The resulting c.3643C>G; p. Gly1215Arg would mean that the patient’s CFH would work properly. Each individual genetic mutation would have to corrected in that way.

Some aHUS patients have no genetic cause found and in others their complement works fine but their complement’s performance is hampered by other factors.

Of course even if a functional technology is found some future aHUS patients will need to join in clinical trials.

If the technology then works effectively it will come at a cost . Some existing gene therapies for other diseases not as complicated as aHUS would be cost $2million for a single treatment for life.

So “NO not yet” is the answer but not entirely ruled out.

Article No 631

This series of articles began with this article HERE .

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