BioMarin reports five-year data for Pombiliti and Opfolda in late-onset Pompe disease

Overview

Updated Yesterday

Adults with late-onset Pompe disease who had already spent an average of 7.6 years on enzyme therapy kept their walking distance nearly unchanged over five more years on BioMarin's Pombiliti and Opfolda, while lung function slipped slightly. BioMarin presented the results October 2 at the World Muscle Society congress in Hiroshima.

The five-year open-label data are the longest efficacy evidence yet for the two-component therapy, which BioMarin gained when it bought Amicus Therapeutics in December 2025. Patients who started the study without prior enzyme therapy did better, gaining 10.5 percentage points in predicted walking distance through 4.5 years. For a progressive muscle-wasting disease, the durability of the effect is the claim the drug's commercial future rests on.

Why it matters

Five years of stability in a progressive disease resets what patients expect from therapy — and shapes how widely this drug replaces standard infusions.

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Key Indicators

patients with 5-year continuous data

Of 118 treated in the open-label extension, 82 took Pombiliti and Opfolda continuously from the original PROPEL baseline.

+0.7%

five-year walk-distance change, ERT-experienced

Mean change in percent-predicted six-minute walk distance from baseline to year 5 (SD 7.76); walking distance held nearly flat.

-2.8%

five-year lung function change, ERT-experienced

Mean change in percent-predicted forced vital capacity from baseline to year 5 (SD 8.55); pulmonary function declined slightly.

+10.5%

walk-distance change to year 4.5, ERT-naïve

Patients new to enzyme therapy gained 10.5 percentage points in predicted six-minute walk distance (SD 11.44).

51.2%

treatment-related adverse event rate

42 of 82 participants reported treatment-related side effects, most manageable; five stopped for safety reasons.

Voices

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People Involved

Greg Friberg, M.D.

Executive Vice President and Chief Research & Development Officer, BioMarin

Presented the five-year open-label data at the World Muscle Society congress

Organizations Involved

BioMarin Pharmaceutical

Biopharmaceutical Company

Markets Pombiliti and Opfolda for late-onset Pompe disease

BioMarin develops therapies for rare genetic diseases and gained the Pompe franchise through the December 2025 acquisition of Amicus Therapeutics.

Amicus Therapeutics

Biotechnology company (acquired)

Acquired by BioMarin in December 2025

Amicus developed cipaglucosidase alfa paired with the oral stabilizer miglustat, winning FDA approval before BioMarin acquired the company.

Timeline

September 2023 October 2026

4 events Latest: 3 days ago

Tap a bar to jump to that date

October 2026
Five-year data presented at World Muscle Society
Latest Research

Results from 82 patients show walking distance steady and lung function slightly lower over five years.
3 days ago
December 2025
BioMarin acquires Amicus Therapeutics
Mergers & Acquisitions

BioMarin buys Amicus, gaining the Pombiliti and Opfolda franchise and its Pompe pipeline.
December 1st, 2025
March 2024
Two-year open-label data published
Research

Journal of Neurology reports 104-week results: six-minute walk distance maintained, lung function stable.
March 1st, 2024
September 2023
FDA approves Pombiliti and Opfolda
Approval

FDA clears the two-component therapy for adults with late-onset Pompe not improving on current enzyme therapy.
September 28th, 2023

Scenarios

Six-year data extend Pombiliti's durability claim

Likely Resolves by Oct 31, 2027

Discussed by: BioMarin management; sell-side analysts covering BMRN on the Q3 2026 earnings call

The open-label extension continues. A follow-up analysis at the next World Muscle Society congress (October 2027) would show whether year-6 values hold near year-5 levels in the ERT-experienced cohort. If walking distance and lung function stay within a few points, the durability claim firms up; if they fall off, the curve bends.

Adoption stalls and Pombiliti revenue plateaus

Uncertain Resolves by Aug 1, 2027

Discussed by: Sell-side analysts tracking rare-disease enzyme replacement markets

Pombiliti competes with Sanofi's next-generation enzyme therapy and the older alglucosidase alfa. If real-world switching does not accelerate, the commercial case for the franchise weakens. Combined Pombiliti and Opfolda revenue, reported quarterly, is the cleanest check on uptake.

Label expansion or a new trial broadens the Pompe market

Possible Resolves by Jan 31, 2028

Discussed by: Rare-disease investment analysts

The current label covers adults over 40 kg who are not improving on existing enzyme therapy. A push into earlier treatment, a pediatric indication, or a first-line positioning would expand the addressable patient pool and extend the franchise beyond the switch population.

Historical Context

2 moments from history that rhyme with this story — and how they unfolded.

August 2021

Nexviazyme shifts the Pompe enzyme therapy market (2021)

The FDA approved Sanofi's avalglucosidase alfa (Nexviazyme) for late-onset Pompe disease. The redesigned enzyme carried optimized mannose-6-phosphate targeting meant to improve muscle uptake over the original alglucosidase alfa.

Then

Became the first next-generation Pompe enzyme therapy on the US market.

Now

Set the competitive frame that Pombiliti and Opfolda entered, with both newer drugs selling against the first-generation standard.

Why this matters now

Pombiliti is the rival next-generation entry. The five-year data are BioMarin's argument that its drug matches or beats the Sanofi product on durability.

2009-2011

Fabrazyme shortage reshapes Fabry treatment (2009-2011)

Contamination closed Genzyme's Allston, Massachusetts plant, cutting global supply of the Fabry drug Fabrazyme and forcing patient rationing worldwide.

Then

The crisis pushed regulators toward alternative therapies and accelerated oral chaperone development, including Amicus's Galafold.

Now

Amicus's expertise in enzyme stabilizers carried into pairing miglustat with cipaglucosidase alfa in Pombiliti.

Why this matters now

The same stabilizer mechanism underpins Opfolda, and the franchise that emerged from the shortage is now BioMarin's Pompe business.