Guidelines for use of Galafold emphasize patient empowerment

Recommendations speak to importance of decision-making for those with Fabry

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A team of expert clinicians and patient advocates has created a new set of recommendations to guide the use of Galafold (migalastat) in people with Fabry disease, highlighting the importance of centering patients’ preferences in treatment decisions.

“We hope that this publication will lead to the provision of consistent high-quality care with a shared decision-making process considering a holistic view of the patient’s experience, including clinical presentation … and patient preference,” the team wrote.

The paper, “Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study,” was published in Frontiers in Medicine. The work was funded by Amicus Therapeutics, the company that sells Galafold.

Fabry disease is caused by mutations in the gene that provides instructions for making the enzyme alpha-galactosidase A (alpha-gal A), which is needed to break down certain fatty molecules including globotriaosylceramide (Gb3) and lyso-Gb3. In Fabry disease, these fatty molecules build up to toxic levels in the body’s organs, ultimately causing disease symptoms.

Galafold is an oral small molecule that acts as a molecular chaperone to stabilize the alpha-gal A protein, which can help increase the protein’s activity in Fabry patients with specific disease-causing mutations.

Here a panel of 16 experts — 14 physicians and two patient advocates — created a set of recommendations for Galafold in Fabry disease. To create the guidelines, the panel used a Delphi process, where they voted on a series of statements in two rounds, with refinement of the statements after the first round.

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Suggestions include conversations about treatment options

The guidelines suggest that, when Fabry disease is diagnosed, clinicians should have comprehensive discussions with patients about what their treatment options are, including eligibility for Galafold based on mutation status.

If the decision is made to start on Galafold, patients should undergo a comprehensive set of evaluations to assess for Fabry-related signs and symptoms, including measures of pain, digestive issues, and markers of heart, kidney, and brain health. Mental health and life quality assessments also should be measured when treatment is started.

These measures should then be repeated again about three months after starting on Galafold, and then again at regular intervals for the duration of treatment.

By conducting regular monitoring, clinicians and patients can increase the odds that, if a new or worsening issue arises, it can be detected early so appropriate care can be started in a timely manner.

Biomarkers also important in treatment choices

The panel recommended clinicians should regularly check alpha-gal A enzyme activity and measure lyso-Gb3 levels, but said these biomarkers should not be the only thing guiding treatment decisions, emphasizing also the importance of assessing organ function and symptom severity when deciding whether to continue, stop, or switch treatments.

“Treatment decisions should take all measured parameters into account, including all Fabry-related symptoms, signs of organ involvement, and pharmacodynamic biomarkers,” the researchers wrote.

The recommendations also underscore the importance of centering the patient’s wishes and preferences in discussions about treatment decisions, and having honest discussions about what is and is not known.

“Where research is lacking, discussion of the available evidence between healthcare professionals (HCPs) and patients can address doubts and empower the patient in the process,” the team wrote.

The guidelines note that if lyso-Gb3 levels increase unexpectedly, clinicians should talk to patients to ensure they’re taking Galafold as prescribed.

“Further research is required to investigate current and potential biomarkers (including [alpha]-Gal A and lyso-Gb3 but not limited to substrate biomarkers) and determine any other potential prognostic tools,” the scientists said.

The researchers noted that, while these recommendations focused on Galafold only, there is a need for more wide-reaching guidelines on the use of Fabry treatments including Galafold or enzyme-replacement therapies (ERTs) that work to deliver a working version of the alpha-gal A enzyme into the body.

“A single set of guidelines would be preferable to guide treatment initiation and cessation/switch of both ERT and” Galafold, the team wrote.