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