BBC article about successful immune system med for rare genetic ADPS disorder

[Kiristar]

New drug offers potential cure for ultra rare inherited condition

A teenage patient who helped discover a rare condition is the first to benefit from a new treatment.

www.bbc.co.uk

 

[RedFox]

This is very good. it's a drug targeted at the condition's pathology and not gene therapy.

 

[Kiristar]

This is very good. it's a drug targeted at the condition's pathology and not gene therapy.

My mistake sorry I've edited the title to correct this.

 

[Utsikt]

Leniolisib has a list price of £352,000 a year, but was approved as cost effective by the health regulator NICE after the NHS negotiated a substantial, confidential discount.

For reference: Daratumumab is a lot cheaper, and will probably become even cheaper when the patents runs out.

It is interesting to see how testing for APSD is quite strongly recommended, even before this treatment was available.

For Huntington’s disease (HD), which is inherited the same way, progressive, and eventually fatal, there is much more focus on everyone doing what’s right for them. I’m assuming the scales shift when you’ve got at least some treatment options like for APSD, and knowing if you’re positive might actually make a difference by getting access to treatments. The main concern for HD is if you want to test before you get children, and what a positive test might mean for children you’ve already got.