Pompe disease - enzyme replacement therapy (Long-term) (acid a-glucosidase deficiency)

Rationale 1,2

NICE HST23

Fabry's disease

Rationale: 1,6

Hypophosphatasia - long term enzyme replacement therapy (ERT)

Rationale 1,6

Asfotase alfa is recommended as an option for treating paediatric onset hypophosphatasia within certain circumstances.

Drugs used in metabolic disorders

Rationale 1,6

Drugs used in metabolic disorders

Rationale 1,6

Carnitine deficiency

Rationale 1,6

Rationale 1

NICE TA912 

Treatment of presymptomatic neonates with classical Menkes disease

Rationale 1,2

Treatment of patients aged ≥18 months with a clinical, molecular and genetically confirmed diagnosis of aromatic L-amino acid decarboxylase deficiency with a severe phenotype

Rationale 1,6

Mucopolysaccharidosis type 4A

Rationale 1,6

NICE HST19 

Treatment of hereditary transthyretin-mediated amyloidosis in adults with Stage 1 and 2 polyneuropathy

Rationale 1,5

NICE TA 1020

Mucopolysaccharidosis IV

Rationale: 4

Hunter syndrome (Mucopolysaccharidosis II)

Rationale: 1,6

Metabolic disorders/Gauchers disease

Rationale 1,6

Mucopolysaccharidosis type 1

Rationale: 1,6

Carnitine deficiency in children of under 12 years, infants and newborns, treatment of both primary & secondary

Rationale 1

Treatment of primary hyperoxaluria type 1 in all age groups

Rationale 1,6

Nephropathic cystinosis

Rationale 1,6

Mercaptamine and Mercaptopurine: Confusion between drug names

We would like to remind prescribers to remain vigilant with regards to the similarity of these two drug names.

Mercaptamine is indicated for the treatment of proven nephropathic cystinosis.
Mercaptopurine is indicated for the treatment of acute leukaemia.

MHRA Drug Safety Update October 2010: Volume 4, Issue 3

Fabry disease

Rationale 1,6

Migalastat hydrochloride is indicated for long-term treatment of adults and adolescents aged 12 years and older with a confirmed diagnosis of Fabry disease (α-galactosidase A deficiency) and who have an amenable mutation

Gaucher disease - Mild to moderate type 1, Niemann-Pick type C disease

Rationale 1,2

Hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine

Rationale 1,6

Fabry disease

Rationale 1,6

Non rheumatology indications

Rationale 1,2

NICE Guidance 

Rationale 1,6

Sapropterin is recommended to be available as a treatment option through routine commissioning for phenylketonuria. Clinical commissioning policy can be found Click Here

Urea cycle disorders - long-term treatment

Rationale 1,6

Long-term treatment of urea cycle disorders (as adjunctive therapy in all patients with neonatal-onset disease and in those with late-onset disease who have a history of hyperammonaemic encephalopathy under expert supervision.

Short Bowel Syndrome

Rationale 1,6

NICE Guidance

Wilson's disease in adults, adolescents and children over 5 years intolerant to D-penicillamine therapy.

Rationale 1,6

Gaucher's disease

Rationale 1

Non-neurological manifestations in patients with mild to moderate alpha-mannosidosis

Rationale 1,6

Wilson's Disease

Rationale 1,2

Pre-existing patients may continue to receive prescriptions from Primary Care, however no new patients should be transferred from Secondary Care to Primary Care.

Wilzin treatment should be initiated under the supervision of a physician experianced in the treatment of Wlison's disease.

For those patients who continue to receive their prescription from Primary Care, a detailed clinical management plan must be provided by the Specialist which includes details on:
(a) Review and follow up process by Specialist
(b) Therapeutic monitoring process - the undertaking of this & interpretation of results should remain the responsibility of the Specialist

Maximum dose is 50mg 5 times a day
Refer to SPC for specific dose details

Wilzin is life long therapy.

March 2013

For unlicensed indications that are not in the BNF

Peyronie's Disease, Scleroderma

Rationale 2

Treating acid sphingomyelinase deficiency (Niemann–Pick disease) type AB and type B

Rationale 7

NICE Guidance

Treatment of arginase 1 deficiency, also known as hyperargininaemia, in adults, adolescents and children aged ≥2 years

NICE TA in development

Lysosomal acid lipase deficiency that is not Wolman disease

Rationale 7

For treating amyotrophic lateral sclerosis, see red traffic light list for other indications

Rationale 6

NICE Discontinued