Five 2023 breakthroughs in drug discovery for rare diseases

Rare Disease Day

Rare diseases are often overlooked for funding and research, but with various incentives and priority review programmes now in place, many companies are beginning to explore these unusual but often devastating conditions. This Rare Disease Day we provide an overview of the progress that has been made in a range of rare diseases so far this year. 

1. Nonsense mutation Duchenne muscular dystrophy 

The National Institute for Health and Care Excellence (NICE) has published its Final Guidance recommending Translarna (ataluren) for reimbursement and use across the National Health Service (NHS) in England and Wales.   

Translarna is the only approved treatment for patients with nonsense mutation Duchenne muscular dystrophy aged two years and older who can walk. 

Read more: Rare muscular dystrophy drug to be funded in England and Wales 

2. Relapsed or refractory Epstein‑Barr virus positive post‑transplant lymphoproliferative disease 

Pierre Fabre will commercialise and distribute the first approved allogeneic T cell immunotherapy in Europe following the transfer of the European Commission marketing authorisation of Ebvallo (tabelecleucel) from Atara Biotherapeutics.  

Ebvallo is the only approved therapy for the treatment of relapsed or refractory Epstein‑Barr virus positive post‑transplant lymphoproliferative disease (EBV+ PTLD) in the EU. 

Read more: First allogeneic T cell immunotherapy launched in EU 

3. TUBB4a leukodystrophy 

The US Food and Drug Administration (FDA) has granted Rare Paediatric Disease (RPD) Designation to SynaptixBio’s drug candidate for TUBB4a leukodystrophy – a genetic and debilitating condition which mainly affects babies and young children.  

RPDs are designed to encourage the development of new drugs with high unmet medical needs, including rare diseases in children. 

Read more: Treatment for leukodystrophy could be “revolutionary” 

4. Inherited retinal degeneration 

Oregon State University College of Pharmacy scientists have shown that lipid nanoparticles and messenger RNA could treat blindness associated with a rare genetic condition.  

Researchers developed nanoparticles able to penetrate the neural retina and deliver mRNA to the photoreceptor cells whose proper function makes vision possible. 

Read more: Lipid nanoparticles and mRNA used to treat hereditary blindness 

5. Uveal melanoma 

Cancer Focus Fund is investing $5 million in funding to support ISA103, ISA Pharmaceuticals’ PRAME-targeting immunotherapy, in a first-in-human study for the treatment of uveal melanoma, a rare ocular cancer.  

Cancer Focus Fund was established in collaboration with The University of Texas MD Anderson Cancer Center to provide funding and clinical expertise to advance promising cancer therapies. 

Read more: $5 million to fund trial of therapy for uveal melanoma

Keep up to date with news related to rare disease treatments.

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