Galafold adherence is high, Fabry patients report gains in quality of life Fabry Disease News

Adults with Fabry disease showed high levels of adherence to Galafold (migalastat) treatment at home over a two-year period, according to a recent study.

Patients also reported a stable quality of life, with a decrease in pain and physical limitations over time — all factors that can influence the likelihood that a person will take their treatment as prescribed, according to the authors.

The main barrier to taking the medication, the researchers write, is forgetfulness, “which should be addressed by the treating physicians to maintain long-term adherence to treatment.”

studying, “Patient reported quality of life and medication adherence in migraine-treated Fabry disease patients: a prospective multicentre study.,” in the magazine Molecular genetics and metabolism.

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Illustration of an arm receiving intravenous therapy

In Fabry disease, genetic mutations in GLA The gene leads to a nonfunctional or partially functional alpha-galactosidase A (alpha-gal A) enzyme, which is required for the breakdown of certain fatty substances. Thus, these substances accumulate in the tissues of the body, which leads to irreversible organ damage.

Galafold is an adjunctive therapy approved by Amicus Therapeutics designed to restore alpha-gal A activity in patients who carry certain types of disease-causing mutations. It primarily works by binding to unstable or dysfunctional alpha-gal A, stabilizing it, and partially restoring its function.

Galafold is taken orally, every day, 2 hours apart from any food.

While oral self-administration provides relief compared to other therapies, such as enzyme replacement therapies given as intravenous injections in healthcare settings, it can also be associated with poor medication adherence.

Not only can this directly affect their effectiveness, but poor adherence to expensive medications can contribute to overburdening the healthcare system.

study design

The MALTA-FABRY study (NCT03683966) was designed to assess adherence to Galafold and other patient-reported outcomes that could influence medication use, such as quality of life and pain symptoms.

A total of 40 adult Fabry patients with a treatable Galafold mutation were recruited at three German centers from 2017 to 2021. They were started on Galafold and followed for 2 years.

Of the 40 participants, three had discontinued treatment before two years, reflecting an overall medication compliance of 92.5%.

The remaining 37 patients (19 men and 18 women) had an average age of 52 years at the time they started Galafold treatment.

Adherence to treatment was assessed using the Medication Adherence Questionnaire (MAQ). This questionnaire contains four questions related to different aspects of non-compliance, including forgetfulness, neglect, stopping medication when feeling better, and stopping medication when feeling worse.

Patients receive 1 point for each question they answer “no”. Thus, a maximum score of four means that the person has the highest possible adherence to the medication, while a score of zero indicates poor adherence.

Among the 25 participants with available data at all time points, the mean MAQ score after six months was 3.92, which remained similar after one year (3.76) and two years (3.8), reflecting a high and stable adherence to treatment.


Forgetting to take medication was the most common item on the MAQ scale that patients answered “yes,” which the researchers note could be attributed to the bi-day regimen and “exacerbated by the shift in days of the week when [the] You must take the medicine.”

“A higher level of compliance can be achieved by encouraging patients to take their medications regularly and practitioners should stress the importance of taking their medications regularly.” [Galafold] in order to reach treatment goals,” the researchers wrote.

Of the 33 participants for whom all data were available or one data point was missing, one had low adherence, eight had medium adherence, and 25 had high adherence at each available follow-up.

Quality of life remained largely stable in most domains, but was significantly improved in role limitations due to physical activity and domains of pain after 2 years of treatment.

Similarly, patients reported a decrease in pain frequency and severity within a year of starting Galafold treatment, and fewer days when they were unable to work, although these were not considered statistically significant changes.

“This is quite remarkable given that the goals of the treatment are in [Fabry disease] Usually aimed at stabilizing a patient’s current condition,” the researchers wrote, noting that the findings support benefits of Galafold that go beyond limiting organ damage.

This study was supported by grants from Amicus.

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