In March 2023, the European Commission (EC) approved Pombiliti (cipaglucosidase alfa) for the treatment of adult patients living with late-onset Pompe disease. Just three months later in June, another Pompe disease therapy was approved: Opfolda (miglustat). Developed by biotechnology company Amicus Therapeutics (“Amicus”), Opfolda and Pombiliti represent a unique two-component therapy.
In the company’s news release, Amicus explains that Pompe disease is characterized by low levels of the enzyme α-glucosidase (GAA). Pombiliti works to overcome that deficiency by replacing the enzyme within the body. Then the active substance in Opfolda, shares the European Medicines Agency:
attaches to cipaglucosidase alfa during treatment. This makes cipaglucosidase alfa more stable so it can continue to be absorbed from the blood by the muscle cells that are affected by Pompe disease.
The drug’s approval follows results from the Phase 3 PROPEL clinical trial. Within this study, researchers examined the impact of Opfolda and Pombiliti in cohorts that had been treated with enzyme replacement therapy (ERT) before, as well as those who had not. The trial showed a clinically relevant improvement in respiratory function and mobility, including increasing the distance that patients could walk over a 6-minute period.
Safety Information
The recommended dose of Pombilitis is 20mg/kg (body weight) bi-weekly alongside 65mg Opfolda, taken 1-3 hours prior. Right now, this treatment combination should not be used in people under age 18 as the safety has not been evaluated.
While relatively safe and well-tolerated, some side effects have been reported with this combination treatment, including:
- Sleepiness
- Skin flushing
- Dizziness
- Fever and chills
- Infusion-site reactions
- Chest pain or pressure
- Coughing or wheezing
- Near-fainting
- Constipation
What You Should Know About Pompe Disease
Pompe disease is a rare genetic disorder that affects an estimated 1 in every 40,000 Americans. GAA gene mutations cause high levels of glycogen, a complex sugar, to accumulate in the body. However, these mutations also cause enzyme deficiencies, meaning that the glycogen cannot be effectively broken down. This causes issues with tissue, muscle, and organ function. There are different subtypes of this disease, including infantile-onset and late-onset. Infantile-onset Pompe disease often appears within a few months of birth and includes symptoms such as an enlarged liver, heart and respiratory issues, muscle weakness, and hypotonia. Without treatment, this can be fatal. Late-onset Pompe disease is often milder and less likely to involve the heart.
