• 40mg/ml & 100mg/ml solution for injection
• Approved for the treatment of paediatric-onset and juvenile-onset hypophosphatasia in line with NICE and NHS England Commissioning Policy

• Subcutaneous copper histidinate injections
• Approved for presymptomatic neonates with classical Menkes disease in line with NHSE Specialised Commissioning Policy
• The following providers are commissioned to provide this service within North East:
  • The Newcastle upon Tyne Hospitals NHS Trust

• 20mg/10ml concentrate for solution for infusion
• Approved for long-term enzyme replacement therapy in Wolman disease (rapidly progressive lysosomal acid lipase deficiency), only if people are aged 2 years or under when treatment starts, in line with NICE and NHSE Specialised Commissioning Policy.
• Services are only commissioned at:
  • Birmingham Women and Childrens NHS Foundation Trust
  • Great Ormond Street Hospital for Children NHS Foundation Trust
  • Manchester University Hospitals NHS Foundation Trust

• 10mg, 30mg, & 100mg capsules 
• 50mg in 5ml & 30mg in 1ml (150mg in 5ml) oral solution
  
  • nutritional supplement and antioxidant approved for use in the
    management of mitochondrial disorders.
• Approved for use under specialist consultant supervision in the
  management of patients with severe hyperlipidaemia who are not tolerating statins due to myopathy. Use in statin induced myopathy is subject to treatment being initiated by a consultant. 
• Lipid clinic initiation only

• 10mg powder for solution for infusion
• Approved for treating alpha-mannosidosis in line with NICE and NHS England Specialised Commissioning Policy

• 250mg capsules
• Approved for the treatment of inborn errors of bile acid synthesis (all ages) in line with NHS England Commissioning Policy
• Approved for the treatment of Cerebrotendinous Xanthomatosis in line with NHS Commissioning Policy. NHS England will commission this drug for patients who are currently being treated (April 2017)

• 125mg & 250mg tablets - also used for the treatment ofcystinuria and rheumatoid arthritis – section 10.1.3

• 300mg capsules
  
  • Approved for the treatment of Wilsons disease in line with NHS England Commissioning Policy. NHS England will commission the treatment for patients who are currently being treated (April 2017)

• 500mg tablets - for use as 2nd line treatment for cystinuria in
  patients who fail to tolerate/respond to penicillamine unlicensed.

• 30% oral solution
• 1g in 5ml injection

• Approved for the treatment of Fabry's disease in line with NICE 

• 20mg/10ml concentrate for solution for infusion
• Approved for treating Fabry disease in line with NICE and NHSE Specialised Commissioning guidance

• 400iu injection

• 5mg/5ml concentrate for solution for infusion:
  • treating mucopolysaccharidosis type 4A in people of all ages

• 100mg powder for concentrate for solution for infusion
• Approved for treating Pompe disease in line with NICE

• 105mg powder for concentrate for solution for infusion vials
• Approved with with miglustat (Opfolda) for treating late-onset Pompe disease in adults in line with NICE and NHSE Specialised Commissioning guidance

For information only - as there are no providers within the North East & Cumbria area that are commissioned to provide this service

• 500mg tablets - Licensed formulation marketed as Ammonaps
• 1g in 5ml & 2g in 10ml injections

• Approved for treating acute hepatic porphyria (AHP) in adults and young people aged 12 and older in line with NICE, only if:
  
  
  
  • they have clinically confirmed severe recurrent attacks (4 attacks or more within 12 months) and
  
  
  • the company provides it according to the commercial arrangement.