Rare Disease Day is less than three weeks away, which means there’s only one thing on our Event Manager, Mary Rose’s mind - the Drug Repurposing for Rare Diseases Conference! In the lead up to what promises to be a fantastic day, we thought, in this week’s blog, we’d give you a sneak peek at what the day has in store and the wonderful speakers who will be joining us.

The first UK drug trial for Rett syndrome - hopes, fears, and a few tears
Rachael Bloom Stevenson - CEO, Reverse Rett & Becky Jenner - CEO, Rett UK

Rachael Bloom Stevenson and Becky Jenner are CEOs of UK Rett Syndrome charities, Reverse Rett and Rett UK respectively. Rett syndrome is a rare genetic disorder affecting brain development, which can cause severe mental and physical disabilities. Rachael and Becky both have daughters diagnosed with Rett syndrome, and both have participated UK’s first drug trial for the condition - a double-blind, placebo-controlled study of the repurposed drug Sarizotan.

In their joint talk, Rachael will discuss Reverse Rett’s integral role in facilitating the implementation of the trial, and the on-going support they provide to the study. Becky will share her and her daughter’s personal experience of the trial, and the many hopes, fears and tears encountered along the way.

Becky Jenner
CEO, Rett UK

Rachael Bloom Stevenson
CEO, Reverse Rett

Prof. Ranganath
Director, NAC & Trustee, AKU Society

Repurposing nitisinone in alkaptonuria: a collaborative effort
Prof. Lakshminarayan Ranganath - Director, NAC and Trustee, AKU Society

Prof. Ranganath (Ranga) is Director for the National Alkaptonuria Centre (NAC) and co-founder and Trustee of the AKU Society. Alkaptonuria (AKU) is an ultra-rare genetic condition, also known as black bone disease, which can cause significant damage to bones, cartilage and tissue, as a result of patients being unable to break down a chemical called homogentisic acid.

The NAC, based at the Royal Liverpool Hospital, was established in June 2012 to provide assessments and treatment to people with alkaptonuria. The service is free on the NHS and open to anyone over 16 who has been diagnosed with AKU and living in England or Scotland. At the NAC, patients are also able to access nitisinone off label, a repurposed drug that has been shown to drastically reduce the harmful acid that produces symptoms of AKU.

In his talk, Ranga will share their efforts in developing and repurposing nitisinone, and the positive data they have collected at the NAC.

Pleotherapy - a new approach to drug discovery
Xavier Paoli - Chief Commerical Officer & Rodolphe Hajj - Chief Pharmacology Officer, Pharnext

Xavier Paoli and Rodolphe Hajj are Chief Commercial Officer and Chief Pharmacology Officer at Pharnext respectively. Pharnext is an advanced-clinical-stage biopharmaceutical company pioneering a new research and development approach called Pleotherapy.

During their presentation, they will discuss the Pleotherapy platform to show how using big genomic data, and artificial intelligence tools, synergistic combinations of repurposed drugs are developed. These new drugs - called Pleodrugs - have numerous advantages, including: faster development processes, high efficacy, and excellent safety profiles.

Pharnext are currently working in Charcot-Marie-Tooth disease, a genetic condition which damages the peripheral nerves, and have used this approach to develop a new treatment which has recently show success in both its primary and secondary endpoints in a phase 3 clinical trial.

Xavier Paoli
Chief Commerical Officer, Pharnext

Rodolphe Hajj
Chief Pharmacology Officer, Pharnext

That’s not all we have planned. Check out our full programme below to see what else we’ll be discussing at the event.


09:30 Registration

10:00 Welcome

10:05 The future of drug repurposing
- Dr Rick Thompson, CEO, BM Manifesto

10:20 The UK’s first drug trial for Rett syndrome / Hopes, fears and a few tears! One family’s experience
- Rachael Bloom Stevenson, Executive Director, Reverse Rett &
Becky Jenner, CEO, Rett UK

11:00 Tea break

11:30 Repurposing nitisinone in Alkaptonuria: a collaborative effort
- Prof. Lakshminarayan Ranganath, Medical Director & Co-founder, AKU Society

12:00 Pleotherapy: a new approach to drug discovery
- Xavier Paoli, VP, Chief Commerical Officer & Rodolphe Hajj, Chief Pharmacology Officer, Pharnext

12:30 Prizes for ‘The Student Voice’ essay competition

12:40 Lunch

13:40 Repurposing to improve surgical outcomes in craniosynostosis
- Dr Dagan Jenkins, Lecturer, UCL Great Ormond Street Institute of Child Health

14:10 Incentivising generics manufacturers to repurpose drugs
- Paul Fleming, Technical Director, BGMA

14:40 Tea break

15:10 Lightning talk session

Increasing the efficiency and success of drug repurposing: utilisation of multiple compound studies in rare diseases
Joanna Segieth, Director, Biosynetix

Patient centricity in action - the use of mobile research nurses in DMD trials
Helen Springford, Vice President of Strategic Development, Illingworth Research

The BATcure family survey
Heather Band, Scientific Officer, BDFA

Drug repurposing: taking practical steps beyond a clinical programme
Gavin Jones, Director of Rare Disease, Open Health

Elsevier data science platform for drug repurposing
Finlay MacLean, Data Scientist, Entellect Elsevier

Idebenone: how repurposing this drug is helping Duchenne muscular dystrophy
Janet Bloor, Parent & Catherine Lawrence, Senior Medical Advisor UK, Santhera

15:50 A life with PNH; from isolation to treatment
- Suzanne Morris, Patient Representative

16:20 Panel Session

17:00 Drinks reception and networking

Download the full programme here

Tickets for the Drug Repurposing for Rare Diseases Conference are still available. Be sure to join us and celebrate Rare Disease Day 2019!

With thanks to our Platinum Sponsor