Drug Repurposing Case Studies

We believe that drug repurposing has so much potential for rare diseases. To show you why, we will be releasing videos and information about a number of drug repurposing case studies throughout our Rare Repurposing Open Call. These case studies will show how different rare disease stakeholders are using repurposing to make a difference to patient’s lives, but still need time and support to deliver fully licenced treatments to the clinic.

If you’d like to learn more about drug repurposing you can visit our drug repurposing page, or watch the above video, where Findacure’s Head of Research, Rick, introduces the topic at our recent scientific conference.

CDKL5 Syndrome

CDKL5 syndrome is a rare genetic disorder that causes severe neuro-developmental impairment and early onset seizures in children. According to NORD, ‘most cannot walk, talk or feed themselves, and many are confined to a wheelchair. Some may have scoliosis, visual impairment, gastrointestinal difficulties, respiratory and sleep problems.’ In this video, Dr Tim Guilliams from Healx, a Cambridge-based drug repurposing start-up, explains how they were able to identify an antidepressant which restored neurotransmission in the affected neurons.


Friedreich’s ataxia

Friedreich’s ataxia is a rare progressive neurodegenerative disease which affects balance, coordination, and speech. As the disease progresses it can also lead to curvature of the spine (scoliosis), diabetes, hearing and vision loss, thickening of the heart muscles (hypertrophic cardiomyopathy), and loss of sensation in the hands and feet. There is currently no disease modifying treatment for Friedreich’s ataxia.

Ataxia UK are heavily involved in research for this condition, and have supported a number of research studies. One study investigated the potential of repurposing the drug nicotinamide for Friedreich’s ataxia. Nicotinamide can increase the levels of a protein called frataxin in the body, which is found at abnormally low levels in Friedreich’s ataxia patients. A small pilot trial showed that nicotinamide would be tolerated in a high dose in Friedreich’s patients, and that it was capable of increasing the levels of frataxin. In fact the levels recorded were similar to those in people who carry a single copy of the Friedreich’s gene, but don’t show any symptoms.

This study was completed over a short time frame, and wasn’t able to test the impact on patient symptoms. With the support of Ataxia UK, the researchers are now working to find funding to run a full clinical trial to test the effect of nicotinamide in Friedreich’s ataxia patients. Findacure have also worked with Ataxia UK, and shown that if the trial were to show that nicotinamide was effective at slowing the progression of the condition, repurposing nicotinamide could save the NHS money by reducing its spend on patient care.

Wolfram Syndrome

Wolfram syndrome is a rare genetic disease, characterised by dilute urine (diabetes insipidus), problems with blood sugar regulation (diabetes mellitus), severe visual impairment, deafness, and neurodegeneration. The symptoms develop in early childhood, diabetes mellitus being the most common early sign, followed by degeneration of the eyesight around the age of 10. There is currently no treatment for Wolfram syndrome. In this video, Prof Timothy Barrett from Birmingham Children’s Hospital, talks about his work to identify a drug to treat the condition, and to set up a clinical trial to test the treatment’s effect on patients.