Alkaline phosphatase

Asfotase alfa

• Solution for injection 18mg/0.45ml, 28mg/0.7ml, 40mg/1ml, 80mg/0.8ml vials

Notes

• NICE HST23: Asfotase alfa (Strensiq) for treating paediatric-onset hypophosphatasia (March 2023):
  1. It is recommended if the person's symptoms started before birth or at birth (perinatal onset) or between the ages of 0 and 6 months (infantile onset).
  2. It is recommended for people whose symptom started between the ages of 6 months and 17 years (juvenile onset) only if:
     1. they are aged 1 year to 4 years and have not reached expected developmental gross motor milestones for their age or
     2. they are aged 5 years to 18 years and have limited mobility assessed by a specialist using the modified Bleck Ambulation Efficiency score and a Bleck score between 1 and 6 or
     3. they are 18 years old and have 2 or more of the following:
        1. current fractures with a history of non-traumatic, recurring or non- or poorly healing fractures
        2. limited mobility assessed by a specialist using the modified Bleck Ambulation Efficiency score and a Bleck score between 1 and 6
  3. Juvenile onset patients must have continuing or recurring significant musculoskeletal pain that affects daily activities and quality of life, and has not improved after 2 different types of painkiller recommended by a national pain specialist
  4. Asfotase alfa is only recommended if the company provides it according to the commercial arrangement.

Amino acids and derivatives

L-arginine

• Injection 500mg/ml, 10ml ampoule (unlicensed, for use in children)

Levocarnitine

• Injection 200mg/ml, 5ml ampoule (1g in 5ml) (unlicensed, for use in children)

Antisense oligonucleotides

For other oligonucleotides used elsewhere, see section 4.12 Oligonucleotide inhibitors

Lumasiran

• Solution for injection 94.5mg vial

Notes

1. NICE HST25: Lumasiran (Oxlumo) is recommended, within its marketing authorisation, as an option for treating primary hyperoxaluria type 1 (PH1) in people of all ages, only if the company provides it according to the commercial arrangement (April 2023).

Vutrisiran

• Solution for injection pre-filled syringe 25mg in 0.5ml

Notes

1. NICE TA868: Vutrisiran (Amvuttra) is recommended, within its marketing authorisation, as an option for treating hereditary transthyretin-related amyloidosis in adults with stage 1 or stage 2 polyneuropathy, only if the company provides it according to the commercial arrangement (February 2022).

Copper chelator

For penicillamine, please see section 10.1.3 Drugs that suppress the rheumatic disease process

Trientine dihydrochloride

• Capsules 300mg
• Tablets 150mg

Notes

1. For use in line with the NHS England clinical commissioning policy: Trientine for Wilson Disease (all ages) (December 2018)
2. This drug will be made available through homecare
3. Capsules and tablets are not interchangeable on a milligram-for-milligram basis due to differences in bioavailability

Indirect gene therapy

Strimvelis

(autologous CD34+ enriched cell fraction)

• 1-10 million cells/ml dispersion for infusion

Notes

1. NICE HST7: Strimvelis for treating adenosine deaminase deficiency–severe combined immunodeficiency (NHS England Commissioned) (February 2018)

Lysosomal enzymes

Avalglucosidase alfa

• Powder for concentrate for solution for infusion 100mg vial

Notes

1. NICE TA821: Avalglucosidase alfa (AVAL) (Nexviadyme) is recommended, within its marketing authorisation, as an option for treating Pompe disease in babies, children, young people and adults, only if the company provides AVAL according to the commercial arrangement (August 2022)

Cipaglucosidase alfa

• Powder for solution for infusion vial 105mg

Notes

1. NICE TA912: Cipaglucosidase alfa (CIPA) (Pombiliti) plus miglustat is recommended, within its marketing authorisation, as an option for treating late-onset Pompe disease in adults, only if the company provides it according to the commercial arrangement (August 2023).

Eliglustat

• Capsules 84mg

Notes

1. NICE HST5: Eliglustat (Cerdelga) is recommended within its marketing authorisation for treating type 1 Gaucher disease, only when the criteria specified in NICE HST5 are met (June 2017)

Elosulfase alfa

• Concentration for solution 1mg/ml 5ml vial

Notes

1. NICE HST19: Elosulfase alfa (Vimizim) is recommended, within its marketing authorisation, as an option for treating mucopolysaccharidosis type 4A (MPS 4A) for people of all ages (April 2022). It is only recommended if the company provides elosulfase alfa according to the commercial arrangement

Migalastat

• Capsules 123mg

Notes

1. NICE HST4: Migalastat (Galafold) is recommended, within its marketing authorisation, as an option for treating Fabry disease in people over 16 years of age with an amenable mutation, only if enzyme replacement therapy (ERT) would otherwise be offered, and it is provided with the discount agreed in the patient access scheme (February 2017).

Pegunigalsidase alfa

• Solution for infusion vials 20mg/10ml

Notes

1. NICE TA915: Pegunigalsidase alfa (Elfabrio) is recommended, within its marketing authorisation, as an option for treating Fabry disease (also known as alpha-galactosidase deficiency) in adults, only if the company provides it according to the commercial arrangement (October 2023).

Sebelipase alfa

• Solution for infusion vials 20mg/10ml

Notes

1. NICE HST30: Sebelipase alfa (Kanuma) is recommended as an option for long-term enzyme replacement therapy in Wolman disease (rapidly progressive lysosomal acid lipase deficiency [LAL-D]), only if people are 2 years or under when treatment starts. It is recommended only if the company provides sebelipase alfa according to the commercial arrangement (January 2024).

Velmanase alfa

• Powder for solution for infusion vials 10mg

Notes

1. NICE HST29: Velmanase alfa (Lamzede) is recommended as an option for treating the non-neurological signs and symptoms of mild to moderate alpha-mannosidosis (December 2023), only if:
   1. treatment is started in people under 18 years (it can be continued in people who turn 18 while on treatment) and
   2. the company provides is according to the commercial arrangement.

Salts

Sodium benzoate

• Injection 200mg/ml, 5ml ampoule (2g in 10ml) (unlicensed, for use in children)
• Oral liquid^SF 500mg/5ml (unlicensed, for use in children)

Sodium phenylbutyrate

• Injection 200mg/ml, 5ml (unlicensed, for use in children)