Patient Centricity Helps Facilitate The Introduction of New Therapies for Rare Diseases

According to a story from Pharmaphorum, there are a number of new treatments that have been introduced or have seen major strides in development over the last year. More patient inclusivity as well as new, pioneering designs in clinical trials have been vital in making it happen. When looking over the year’s achievements, there are definitely some things for the rare community to be excited about.

It’s All In The Genes

Gene therapy has been a big player in many of the new treatments being developed. After all, almost 80 percent of rare diseases are genetic in nature, so this technology is bound to have a role in treating and hopefully curing a lot of these diseases. Some examples are Sangamo’s trial which tested their zinc finger nuclease technology. This tech was first tested as a treatment for Hunter syndrome. In patients that have been treated with the single dose infusion, things appear to be going smoothly so far. It is possible that the technology could be effective in treating a variety of other rare conditions as well.

Vertex has also been hard at work advancing a new three part combination gene therapy that has the potential to be effective in as much as 90 percent of patients with the rare disorder cystic fibrosis. While this still is far from a cure, and it will still take time for therapies that can treat all patients to be developed (thanks to the many mutations that can cause cystic fibrosis), this is still a meaningful sign of progress for this rare patient community.

New Indications

Amryt Pharma from the UK has also been hard at work trying to get new therapies on the market for rare diseases. The company has a trial in the works to test the homozygous familial hypercholesterolemia drug Lojuxta in children. The company is also working on an investigational drug candidate called AP101, which is being developed to treat the rare, devastating skin disease epidermolysis bullosa.

Every step of the way, patient community feedback has played a meaningful role. Take for instance the experimental Parkinson’s disease therapy APL-130277. This treatment is intended to treat “off” episodes, periods during the day when it becomes clear that the effect of medication is starting to wear off and symptoms worsen; a solution to this problem has been a great need from the community for a long time.


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