The U.S. Food and Drug Administration on August 1, 2014 announced the approval of Lumizyme (alglucosidase alfa) for treatment of infantile-onset Pompe disease in patients who are younger than 8 years of age. 

In the meantime, the Risk Evaluation and Mitigation Strategy (REMS) known as the Lumizyme ACE (Alglucosidase Alfa Control and Education) Program is being removed.

Pompe disease, a very rare genetic disorder, occurs in an estimated 1 in every 40,000 to 300,000 newborns.  It is characterized by heart and skeletal muscle weakness, which is the primary symptom and it can progress to cause respiratory weakness and even death from respiratory failure.

The disease results from gene mutations that prevent the body from making enough of an enzyme called acid alpha-glucosidase (GAA), which is necessary for proper muscle functioning. GAA is used by the heart and muscle cells to convert glycogen into energy. The enzyme deficiency can cause build-up of glycogen in the cells and slow energy production and, ultimately, weaken the heart and muscles. 

Lumizyme is believed to work as GAA to reduce the accumulated glycogen in heart and skeletal muscle cells.

Lumizyme was approved by the FDA in 2010 with a REMS to restrict its use to treatment of late (non-infantile) onset Pompe disease in patients who are 8 years of age or older. The REMS was required to reduce the potential risk of rapid disease progression in both the infantile-onset patients and late-onset Pompe disease patients who are 8 years of age or older, and to communicate the risks of adverse effects including anaphylaxis, severe allergic reactions, and severe skin and systemic immunity related reactions to prescribers and patients.

At the time Lumizyme was first approved, data were insufficient to support the safety and efficacy of Lumizyme for the treatment of the infantile-onset Pompe disease, so Lumizyme was indicated only to treat late onset Pompe disease patients aged 8 years or older.  Infantile-onset Pompe disease and the disease in patients younger than 8 years of age remain treated with Myozyme, which was already approved. Both Myozyme and Lumizyme are manufactured by Genzyme Corporation and both are using the same cell  line for the production and the difference is the production scale.

This approval indicates Lumizyme can be used for all Pompe disease patients, regardless of their age.

The FDA approved Lumizyme after reviewing newly available information and determining that Lumizyme is chemically and biochemically comparable to those associated with Myozyme.  Based on the similarity, Lumizyme is expected to be as safe and effective as Myozyme.  Additionally, a single-center clinical trial of 18 infantile-onset Pompe disease patients, aged 0.2 to 5.8 months at the time of first infusion, supports that infantile-onset patients treated with Lumizyme will have a similar outcome in ventilator-free survival as those treated with Myozyme.

Because the status of Lumizyme has been changed, a REMS restricting its use is no longer needed.  The risks of analhylaxis, severe allergic reactions and sever cutaneous and immune mediated reactions associated with use of Lumizyme still exist.  But the risks are comparable to those associated with Myozyme and communicated in  labeling through the Warnings and Precautions, and a Boxed Warning.

Health care professionals and patients as well should be aware:

The Warnings and Precautions section of the Lumizyme product label and the Clinical Studies section of the Lumizyme label have been updated to include the risk of the drug in infantile-onset Pompe disease patients.

Lumizyme is approved with a Boxed Warning to indicate that Lumizyme can result in anaphylaxis, severe allergic reactions, immune-mediated reactions and cardiorespiratory failure.

The FDA advises that health care professionals should continue to refer to the drug prescribing information for the latest recommendations on prescribing Lumizyme and report adverse events to the FDA.

With the FDA approval, Lumizyme will be no longer restricted for its distribution and use.

The most commonly reported side effects for Lumizyme were infusion-related reactions and other adverse effects included severe allergic reactions, hives, diarrhea, vomiting, shortness of breath, itchy skin, skin rash, neck pain, partial hearing loss, flushing, pain in extremities, and chest discomfort.

Myozyme and Lumizyme are marketed by Cambridge, Massachusetts-based Genzyme.

(An FDA press repease sightly edited)