Funding Of 2nd Generation Enzyme Replacement Therapy (ERT) Nexviazyme (avalglucosidase alfa) For Treating Pompe Disease

The New Zealand Pompe Network (NZPN) team is ecstatic to learn that the PHARMAC Rare Disorders Advisory Committee has RECOMMENDED the funding of 2nd generation enzyme replacement therapy (ERT) Nexviazyme (avalglucosidase alfa) for treating Pompe Disease. This recommendation is for both infantile onset Pompe (IOPD) and Late onset Pompe (LOPD). Until now, only infants have been eligible for treatment in New Zealand.

Allyson Lock, Executive Director of New Zealand Pompe Network said

“This recommendation has been an awfully long time coming. New Zealand is so far behind many other countries with treatments of this kind for rare disorders. A growing number of countries have treated Pompe patients since the first approved drug in 2006. There are around 80 countries treating patients. People with Pompe disease in New Zealand have had to rely on compassionate access to drugs, or participation in clinical trials. So, to have New Zealand finally acknowledging the worthiness of this drug is absolutely a game changer for those of us with Pompe, and those who will be diagnosed in the future.

I would really like to acknowledge that this has been a worldwide effort from patients, patient advocates, patient organisations and researchers. Thank you for your tireless work and dedication to people affected by Pompe disease. You are all real-life heroes!

It is our hope that PHARMAC will expedite the availability of this medicine so that when someone is diagnosed with Pompe disease their doctor can tell them that there is a treatment, and they can get it here in New Zealand. That would be an amazing outcome”!

Currently there are 11 diagnosed patients in New Zealand. 7 on compassionate access, 4 on a clinical trial, and 1 not wanting treatment.

An excerpt from Record of the Rare Disorders Advisory Committee Meeting held online on 29 May 2024

11.3. The Advisory Committee recommended that avalglucosidase alfa for the treatment of late onset Pompe disease be funded with a medium priority.

What is Pompe disease?

Pompe disease (also known as acid-maltase disease and glycogen storage disease II) is a rare genetic disorder that causes progressive weakness to the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA), which the body uses to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes, which function as cellular clearinghouses. Lysosomes ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles.

In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme, which causes buildup that damages the muscles of the skeletal muscles and heart most seriously. The severity of the disease and the age of onset, which varies widely, are related to the degree of enzyme deficiency.

There are two forms of Pompe disease:

1. Early onset (infantile form) is caused by the complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, trouble breathing, muscle weakness, enlarged heart, floppiness, and head lag. Many infants with Pompe disease also have enlarged tongues. Without enzyme replacement therapy, most babies die from cardiac or respiratory complications before their first birthday.
2. Late onset (juvenile/adult) results from partial deficiency of GAA and can begin as early as the first decade of childhood or well into adulthood. Muscle weakness progresses to death from respiratory failure after several years. The heart is usually not involved.

Enzyme replacement therapy can help improve muscle tone and reduce glycogen storage in individuals with Pompe disease.

If you would like more information about the New Zealand Pompe Network, please go to our website: http://www.nzpompe.network

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