Proposal to fund treatments for rare metabolic disorders
We are seeking feedback on a proposal to fund treatments for rare metabolic disorders
What we’re proposing
We are seeking feedback on a proposal to fund the following treatments for people with rare metabolic disorders from 1 April 2021:
- Carglumic acid for hyperammonaemia arising from severe organic acidaemia.
- Various supplements for inborn errors of metabolism:
- Coenzyme Q10 for Coenzyme Q10 deficiency mitochondrial disorders.
- Levocarnitine for carnitine deficiency due to inborn errors of metabolism.
- Riboflavin for riboflavin or riboflavin-derived cofactor deficiency due to inborn errors of metabolism.
- Arginine for the treatment of metabolic disorders.
- Taurine for the treatment of metabolic disorders.
Consultation closes at 10 am on Monday, 22 February 2021 and feedback can be emailed to consult@pharmac.govt.nz.
We would be interested in receiving feedback regarding the specific brands of the treatments that would be listed in the Pharmaceutical Schedule.
Who we think will be interested
- Patients with rare metabolic disorders and their whānau
- Metabolic specialists and clinicians
- Hospital pharmacies and DHBs
About metabolic disorders and inborn errors of metabolism
Those with a metabolic disorder cannot easily break down food into simpler components. Metabolic disorders that are genetic (often inherited) are known as inborn errors of metabolism.
Those with inborn errors of metabolism cannot turn food into energy or remove metabolic waste. This rare disorder is usually caused by defects in proteins (enzymes) that would normally help break down nutrients from food.
Carglumic acid
What would the effect be?
Carglumic acid would be funded in hospitals for the acute treatment of patients with organic acidaemia that present with hyperammonaemia.
Our clinical advice indicates that treatment with carglumic acid in this setting would replace haemofiltration, which is less preferable due to challenges of administration in an infant and is associated increased risk of mortality and morbidity.
We estimate that one patient every two to three years would be diagnosed with a severe organic acidaemia and would require treatment with carglumic acid.
About organic acidaemia and carglumic acid
Organic acidaemia is caused by inborn errors of metabolism that affect enzymes involved in the breakdown pathways of amino acids in the urea cycle. Organic acidaemia typically presents in neonates or infants and is accompanied by severe hyperammonaemia (high levels of ammonia). Severe hyperammonaemia requires urgent treatment because it can lead to life-threatening neurological complications.
Carglumic acid is a synthetic version of a naturally occurring activator of the urea cycle and helps to regulate the level of ammonia in these patients.
Why we’re proposing this
A funding application carglumic acid for the treatment of hyperammonaemia resulting from isovaleric, methylmalonic and proprionic organic acidaemias was considered by the Rare Disorders Subcommittee of the Pharmacology and Therapeutics Advisory Committee (PTAC) in November 2018 and was recommended for funding with a medium priority. PTAC reviewed and agreed with the recommendation by the Rare Disorders Subcommittee at its meeting in February 2019.
Details about our proposal
Carglumic acid would be listed in Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 with no brand specified, meaning that hospitals could purchase any brand.
|
Chemical |
Formulation |
|---|---|
|
Carglumic acid |
Tab disp 200 mg |
Carglumic acid would be listed subject to the following restrictions in Part II of Section H of the Pharmaceutical Schedule as follows:
Restricted
INITIATION
Metabolic physician
Re-assessment required after 1 month
For the acute treatment of organic acidaemias as an alternative to haemofiltration in patients awaiting liver transplant.
CONTINUATION
Metabolic physician
Re-assessment required after 12 months
Both:
- The treatment remains appropriate and the patient is benefiting from treatment; and
- The patient is awaiting a liver transplant.
Coenzyme Q10
What would the effect be?
Coenzyme Q10 would be funded for the treatment of primary coenzyme Q10 deficiency and pre-emptive treatment prior to confirmed diagnosis in both the community and hospital setting. We estimate that five to seven patients per year would be diagnosed with coenzyme Q10 deficiency and would require treatment.
About coenzyme Q10 deficiency and treatment
Coenzyme Q10 is a compound that helps generate energy in the body’s cells. Primary coenzyme Q10 deficiency is a rare mitochondrial disease where the body does not produce enough coenzyme Q10. It usually affects multiple systems in the body.
Early treatment with high dose oral coenzyme Q10 can limit disease progression and reverse some presentations of the disease.
Why we’re proposing this
A funding application for coenzyme Q10 for the treatment of mitochondrial disease was considered by the Rare Disorders Subcommittee in September 2019. The Subcommittee recommended that funding be deferred subject to additional information to define the impacted patient population. PHARMAC has since received further clinical advice regarding the patient population and this proposal is in line with the advice received. PHARMAC currently funds coenzyme q10 for a number of patients through the Named Patient Pharmaceutical Assessment (NPPA) funding pathway.
Details about our proposal
Coenzyme Q10 would be listed in Section B and Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 as Cost Brand Source (CBS).
|
Chemical |
Formulation |
Brand |
Pack Size |
Proposed Price and Subsidy |
|---|---|---|---|---|
|
Coenzyme Q10 |
Tab 30 mg |
Good Health |
200 |
CBS |
|
Coenzyme Q10 |
Tab 30 mg |
Country Life |
60 |
CBS |
|
Coenzyme Q10 |
Tab 50 mg |
Blackmores |
30 |
CBS |
|
Coenzyme Q10 |
Cap 100 mg |
Clinicians |
60 |
CBS |
|
Coenzyme Q10 |
Cap 120 mg |
Solgar |
30 |
CBS |
Coenzyme Q10 would be listed in Section B of the Pharmaceutical Schedule subject to the following Special Authority criteria as follows:
Special Authority for Subsidy
Initial application only from a metabolic physician. Approvals valid for 3 months where patient has a suspected inborn error of metabolism resulting in coenzyme Q10 deficiency.
Renewal only from a metabolic physician. Approvals valid for 24 months for applications meeting the following criteria:
Both:
- The patient has a confirmed diagnosis of an inborn error of metabolism resulting in coenzyme Q10 deficiency; and
- The treatment remains appropriate and the patient is benefiting from treatment.
A similar restriction would be applied in Part II of Section H of the Pharmaceutical Schedule.
Levocarnitine
What would the effect be?
Levocarnitine would be funded for the treatment of carnitine deficiency for patients with inborn errors of metabolism in both the community and hospital setting. We estimate that five patients per year would require levocarnitine supplementation.
About carnitine deficiency and levocarnitine
Carnitine is a small protein that plays a critical role in the body’s energy production. Carnitine deficiency is caused by inborn errors of metabolism that affect the level or actions of carnitine in the body.
Supplementation with levocarnitine is used to treat carnitine deficiency due to various metabolic disorders.
Why we’re proposing this
A PHARMAC-initiated application for levocarnitine for inborn errors of metabolism was reviewed by the Rare Disorders Subcommittee of PTAC at its September 2019 meeting and was recommended for funding with a high priority. PHARMAC also currently funds levocarnitine for a number of patients through the NPPA funding pathway.
Details about our proposal
Levocarnitine would be listed in Section B and Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 with no brand specified.
|
Chemical |
Formulation |
Brand |
Pack Size |
Proposed Price and Subsidy |
|---|---|---|---|---|
|
Levocarnitine |
Cap 500 mg |
Horely’s Health |
60 |
CBS |
|
Levocarnitine |
Cap 500 mg |
Horely’s Health |
120 |
CBS |
|
Levocarnitine |
Cap 500 mg |
New Balance |
180 |
CBS |
|
Levocarnitine |
Cap 500 mg |
Solgar |
30 |
CBS |
|
Levocarnitine |
Oral liq 500mg per ml |
Balance |
300 ml |
CBS |
Levocarnitine would be listed in Section B of the Pharmaceutical Schedule subject to the following Special Authority criteria as follows:
Special Authority for Subsidy
Initial application only from a metabolic physician. Approvals valid for 3 months where patient has a suspected inborn error of metabolism resulting in carnitine deficiency.
Renewal only from a metabolic physician. Approvals valid for 24 months for applications meeting the following criteria:
Both:
- The patient has a confirmed diagnosis of an inborn error of metabolism resulting in carnitine deficiency; and
- The treatment remains appropriate and the patient is benefiting from treatment.
A similar restriction would be applied to Part II of section H of the Pharmaceutical Schedule.
Riboflavin
What would the effect be?
Riboflavin would be funded for the treatment of riboflavin or riboflavin-derived cofactor deficiency due to inborn errors of metabolism and for pre-emptive treatment prior to confirmed diagnosis. We estimate that 50 patients in New Zealand per year would have riboflavin responsive metabolic conditions and require treatment.
About riboflavin deficiency and treatment
Riboflavin (also known as vitamin B2) is required for cellular respiration. Riboflavin deficiency can result from defects in proteins involved in riboflavin pathways or defects other proteins derived from riboflavin. Supplementation is used to treat various inborn errors of metabolism and is a lifesaving treatment for some patients.
Why we’re proposing this
A funding application for riboflavin for the treatment, while awaiting testing results, of riboflavin responsive metabolic conditions (Brown-Vialetto-Van Laere, Multiple acyl-CoA dehydrogenase deficiency (MADD), lipid storage myopathy) was made to PHARMAC in 2019, shortly after the 2019 Rare Disorders Subcommittee meeting. PHARMAC have sought expert clinical advice regarding the proposal, which is supportive of a benefit of riboflavin for the treatment of a number of metabolic conditions responsive to riboflavin supplementation. PHARMAC also currently funds riboflavin for various disorders through the NPPA funding pathway.
Further information can be found in the Application Tracker record for riboflavin.(external link)
Details about our proposal
Riboflavin would be listed in Section B and Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 as Cost Brand Source (CBS).
|
Chemical |
Formulation |
Brand |
Pack Size |
Proposed Price and Subsidy |
|---|---|---|---|---|
|
Riboflavin |
Tab 100 mg |
Solgar |
100 |
CBS |
|
Riboflavin |
Tab 100 mg |
Country Life |
100 |
CBS |
Riboflavin would be listed in Section B of the Pharmaceutical Schedule subject to the following Special Authority criteria as follows:
Special Authority for Subsidy
Initial application only from a metabolic physician. Approvals valid for 3 months where patient has a suspected inborn error of metabolism resulting in riboflavin or riboflavin-derived cofactor deficiency.
Renewal only from a metabolic physician. Approvals valid for 24 months for applications meeting the following criteria:
Both:
- The patient has a confirmed diagnosis of an inborn error of metabolism resulting in riboflavin or riboflavin-derived cofactor deficiency; and
- The treatment remains appropriate and the patient is benefiting from treatment.
A similar restriction would be applied to Part II of section H of the Pharmaceutical Schedule.
Arginine
What would the effect be?
Arginine would be funded for the treatment of patients with rare metabolic disorders, including urea cycle disorders (UCD), ornithine aminotransferase deficiency and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). We estimate that one to two patients per year would have either an UCD or MELAS and also require arginine supplementation.
About arginine and arginine deficiency
Arginine is an amino acid that is used as a building block to form proteins. Deficiencies of arginine have the potential to disrupt many functions in the body, and there are a number of metabolic conditions for which arginine is indicated, including urea cycle disorders, ornithine aminotransferase deficiency, and MELAS.
Why we’re proposing this
PHARMAC has received a number of NPPA applications for the use of arginine to treat metabolic conditions. PHARMAC has sought clinical advice regarding arginine, which is supportive of a benefit of arginine supplementation for patients with a number of conditions due to inborn errors of metabolism. Having access to arginine on the Pharmaceutical Schedule means patients can start treatment quicker and reduce the administrative burden for clinicians.
Details about our proposal
Arginine would be listed in Section B and Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 as Cost Brand Source (CBS).
|
Chemical |
Formulation |
Brand |
Pack Size |
Proposed Price and Subsidy |
|---|---|---|---|---|
|
Arginine |
Powder |
Biomed |
500 g |
CBS |
|
Arginine |
Powder |
Scientific Supplies |
1,000 g |
CBS |
|
Arginine |
Powder |
Ajinimoto |
1,200 g |
CBS |
Arginine would be listed in Section B of the Pharmaceutical Schedule subject to the following Special Authority criteria as follows:
Special Authority for Subsidy
Initial application only from a metabolic physician. Approvals valid for 3 months where patient has a suspected inborn error of metabolism resulting in urea cycle disorders, ornithine aminotransferase deficiency, or MELAS.
Renewal only from a metabolic physician. Approvals valid for 24 months for applications meeting the following criteria:
Both:
- The patient has a confirmed diagnosis of an inborn error of metabolism resulting in urea cycle disorders, ornithine aminotransferase deficiency, or MELAS; and
- The treatment remains appropriate and the patient is benefiting from treatment.
Taurine
What would the effect be?
Taurine would be funded for the treatment of patients with mitochondrial disease ND6 (Complex 1) deficiency and MELAS. We estimate that one to two patients a year would have Complex 1 deficiency or MELAS and require taurine supplementation.
About taurine and taurine deficiency
Taurine is an amino acid that is used as a building block for proteins, and is essential for a number of functions in the body, including the cardiovascular and central nervous system. Taurine deficiency can have severe clinical implications in ND6 (Complex 1) deficiency and MELAS and may be receptive to taurine supplementation.
Why we’re proposing this
PHARMAC has received NPPA applications for the use of taurine to treat metabolic conditions. PHARMAC has sought clinical advice regarding taurine, which is supportive of a benefit of taurine supplementation for patients with ND6 (Complex 1) deficiency and MELAS. Having access to taurine on the Pharmaceutical Schedule means patients can start treatment quicker and reduce the administrative burden for clinicians.
Details about our proposal
Taurine would be listed in Section B and Part II of Section H of the Pharmaceutical Schedule from 1 April 2021 as Cost Brand Source (CBS).
|
Chemical |
Formulation |
Brand |
Pack Size |
Proposed Price and Subsidy |
|---|---|---|---|---|
|
Taurine |
Cap 500 mg |
Solgar |
500 |
CBS |
|
Taurine |
Powder |
Life Extension |
300 g |
CBS |
Taurine would be listed in Section B of the Pharmaceutical Schedule subject to the following Special Authority criteria as follows:
Special Authority for Subsidy
Initial application only from a metabolic physician. Approvals valid for 3 months where patient has a suspected inborn error of metabolism resulting in ND6 complex 1 deficiency or MELAS.
Renewal only from a metabolic physician. Approvals valid for 24 months for applications meeting the following criteria:
Both:
- The patient has a confirmed diagnosis of an inborn error of metabolism resulting in ND6 complex 1 deficiency or MELAS; and
- The treatment remains appropriate and the patient is benefiting from treatment.
A similar restriction would be applied to Part II of section H of the Pharmaceutical Schedule.
To provide feedback
Send us an email: consult@pharmac.govt.nz by 10am Monday 22 February 2021.
All feedback received before the closing date will be considered by PHARMAC’s Board (or its delegate) prior to making a decision on this proposal.
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