9.8. Metabolic disorders
9.8.1. Drugs used in metabolic disorders
Restrictions:
Restricted to specialist use as an enzyme-replacing therapy for the treatment of patients with Pompe disease (acid α-glucosidase deficiency).
Restrictions:
Restricted to specialist use for the treatment of X-linked hypophosphataemia in children and adolescents aged 1 to 17 years with radiographic evidence of bone disease.
Available via the Ultra Orphan Pathway with reassessment by SMC following 3 years of data collection. Appropriate paperwork needs completing before prescribing to ensure registration on the national risk sharing scheme.
Restrictions:
Restricted to specialist use only as a long-term enzyme replacement therapy in combination with the enzyme stabiliser miglustat for the treatment of adults with late-onset Pompe disease (acid α-glucosidase [GAA] deficiency).
Restrictions:
Restricted to specialist use only for the treatment of patients aged 18 months and older with a clinical, molecular, and genetically confirmed diagnosis of aromatic L-amino acid decarboxylase deficiency with a severe phenotype.
Prescribing Notes:
Designated as an ultra-orphan drug. Appropriate paperwork needs completing before prescribing to ensure registration on the national risk sharing scheme.
Restrictions:
The long-term treatment of adults with Gaucher disease type 1 (GD1) who are CYP2D6 poor metabolisers, intermediate metabolisers or extensive metabolisers is restricted to specialist use only.
Restrictions:
Restricted to specialist use for the treatment of patients with molybdenum cofactor deficiency (MoCD) Type A.
Prescribing Notes:
Available via the Ultra Orphan Pathway with a final assessment by SMC following 3 years of data collection. Appropriate paperwork needs completing before prescribing to ensure registration on the national risk sharing scheme.
Restrictions:
Use as adjunctive therapy for chronic management of adults with urea cycle disorders (UCDs) who cannot be managed by dietary protein restriction and/or amino acid supplementation alone is restricted to specialist initiation.
Restrictions:
Use in the long-term enzyme replacement therapy in patients with Gaucher disease is restricted to specialist use under the supervision of a physician experienced in the management of patients with Gaucher disease.
Restrictions:
This is an orphan product and restricted to specialist initiation.
Prescribing Notes:
Mercapatamine bitartrate gastro-resistant capsules (Procysbi®) are not recommended for use in NHS Scotland and are not included in the GGC Formulary.
Restrictions:
Restricted to specialist use for the treatment of Fabry disease in patients aged 16 and over who have an amenable mutation. In males with classic mutations (leucocyte enzyme activity <1%) treatment should commence at diagnosis; in females and those males with later onset mutations with higher levels of leucocyte enzyme activity, treatment should commence when patients experience uncontrolled pain, evidence of renal, cardiac or neurovascular disease, or gastrointestinal symptoms that significantly reduce quality of life.
Restrictions:
Use in long-term enzyme replacement therapy in patients with moderate type 1 Gaucher disease is restricted to specialist use under the supervision of a physician experienced in the management of patients with Gaucher disease. The use in the treatment of Niemann-Pick type C disease is not recommended by SMC and remains non-Formulary
Restrictions:
Restricted to specialist use only.
Prescribing Notes:
As an enzyme replacement therapy for the treatment of non-Central Nervous System (CNS) manifestations of Acid Sphingomyelinase Deficiency (ASMD) in paediatric and adult patients with type A/B or type B.
Designated as an ultra-orphan drug. Appropriate paperwork needs completing before prescribing to ensure registration on the national risk sharing scheme.
Restrictions:
Restricted to specialist initiation.
Prescribing Notes:
Near Patient Testing (NPT) arrangements for GPs may be in place for this medicine. See the relevant section in the Prescribing Resources page for current information.
Restrictions:
This is an orphan product and restricted to specialist initiation.
Prescribing Notes:
Available granule formulations are not dose equivalent and are not interchangeable and should be prescribed by brand name to avoid confusion.
Restrictions:
Restricted to initiation by, or on the advice of a specialist for the treatment of Wilson's disease in adults, adolescents and children ≥5 years who are intolerant to D-penicillamine therapy.
Restrictions:
Use for the long-term enzyme replacement therapy in patients with type 1 Gaucher disease is restricted to specialist use under the supervision of a physician experienced in the management of patients with Gaucher disease.
Restrictions:
Restricted to specialist use as an enzyme-replacing therapy for the treatment of non-neurological manifestations in patients with mild to moderate alpha-mannosidosis via the Ultra Orphan Pathway.
Restrictions:
Restricted to specialist use as an adjunct to diet in adult patients with genetically confirmed familial chylomicronaemia syndrome (FCS) and at high risk for pancreatitis, in whom response to diet and triglyceride lowering therapy has been inadequate.
Prescribing Notes:
- This therapy is available via the Scottish Government Ultra-orphan pathway
- Formulary status will be reconsidered following the reassessment by SMC (expected November 2023).
9.8.2. Acute porphyrias
Restrictions: This is an orphan product. Restricted to use by experts providing the supraregional specialist service for N-acetylglutamate synthase deficiency. Use for hyperammonaemia due to isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia is restricted to specialist use.