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Ultra-orphan medicines

Published on 26 July 2022

This scheme pools funds from all Scotland’s health boards for a small number of approved medicines for very rare diseases.

In June 2018 the Scottish Government announced its new ultra-orphan pathway. This new process makes medicines for very rare diseases available to Scottish patients.

It’s hoped that the pathway will:

  • improve early access to ultra-orphan medicines
  • support the collection of more real world data to support future Scottish Medicine Consortium (SMC) reassessment and decision making about the continued availability of medicines the initiative covers

The Scottish Board Chief Executives (BCEs) agreed, in April 2020, to set up a new risk sharing arrangement to fund products approved through the new process. This scheme replaces the old Ultra Orphan Drugs Risk Sharing scheme created in 2005. Medicines for inherited metabolic diseases (IMD), which the old scheme funded, are now covered by the IMD medicines risk share. We also host this scheme.

The new (2020) Ultra-Orphan Drug Risk Share provides funding for:

  • medicines that have approval via the ultra-orphan medicines pathway
  • a small number of medicines for extremely rare conditions that have been accepted by SMC outside the new ultra-orphan process

The below list will expand as new products become available through the pathway.

List of medicines and indications included in the scheme

  • Afamelanotide (Scenesse) for prevention of photoxicity in adult patients with erythropoietic protoporphyria (EPP).
  • Ataluren (Translarna) for the treatment of Duchenne muscular dystrophy (DMD) resulting from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older.
  • Burosumab (Crysvita) for the treatment of X-linked hypophosphataemia (XLH) with radiographic evidence of bone disease in children 1 year of age and older and adolescents with growing skeletons.
  • Inotersen (Tegsedi) for the treatment of stage 1 or stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR).
  • Mifamurtide (Mepact) for the treatment of high-grade resectable non-metastatic osteosarcoma in children, adolescents and young adults.
  • Nusinersen (Spinraza) for Spinal Muscular Atrophy (SMA) Type I.
  • Nusinersen (Spinraza) for SMA Type II and III.
  • Odevixibat (Bilvay) for treatment of progressive familial intrahepatic cholestasis (PFIC) in patients aged 6 months or older. Available via SMC ultra-orphan pathway from July 2022 and added to UO risk sharing.
  • Onasemnogene abeparvovec (Zolgensma) treatment of patients with 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene and a clinical diagnosis of SMA type 1, or patients with 5q SMA with a bi-allelic mutation in the SMN1 gene and up to 3 copies of the SMN2 gene.
  • Patisiran (Onpattro) for the treatment of hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) in adult patients with stage 1 or stage 2 polyneuropathy.
  • Voretigene neparvovec (Luxturna) for the treatment of adult and paediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells.

Find further information about the ultra-orphan medicines pathway on the website.

Healthcare Improvement Scotland is another useful resource.

NSD contact

Please note that NSD does not directly provide medical services and we won't be able to answer queries about your own care or appointments. If you would like to discuss any aspects of your care, please contact your primary healthcare provider. This might be your GP, consultant, nurse or other healthcare professional. They will be best placed to give you the right advice.