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Ultra-orphan medicines

Published on 21 April 2021

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

  • Mifamurtide (Mepact®) for the treatment of high-grade resectable non-metastatic osteosarcoma in children, adolescents and young adults (recommended by SMC in August 2011. Non-IMD medicine included in the 2005 Ultra Orphan Risk Sharing Scheme).
  • Inotersen (Tegsedi®) for the treatment of stage 1 or stage 2 polyneuropathy in adult patients with hereditary transthyretin amyloidosis (hATTR).
  • Patisiran (Onpattro®) for the treatment of hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) in adult patients with stage 1 or stage 2 polyneuropathy.
  • Nusinersen (Spinraza®) for Spinal Muscular Atrophy (SMA) Type I (recommended by SMC in April 2018).
  • Nusinersen (Spinraza®) for SMA Type II and III (approved via SMC ultra-orphan pathway in July 2019).
  • 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.
  • 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 is now available through the new ultra-orphan pathway.
  • Afamelanotide (Scenesse®) for prevention of photoxicity in adult patients with erythropoietic protoporphyria (EPP). (approved via SMC ultra-orphan pathway in February 2021).
  • 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. (approved for restricted use by SMC in March 2021).

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

Healthcare Improvement Scotland is another useful resource.

NSD contact

Senior Programme Manager, Anke Roexe – – 0131 3141053