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Home › Conditions › Late-onset Pompe disease

Late-onset Pompe disease

1 published article · Updated continuously

Clinical Trial Landscape

Clinical Trials for Late-onset Pompe disease

5 trials tracked for Late-onset Pompe disease: 5 in phase 3 or 4 and 2 with published results. The most-cited published study has 28 citations.

5Trials tracked
5Phase 3 & 4
0Recruiting
2With published results
Phase distribution
Phase 4 2 Phase 3 3
  1. Phase 3 A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD) Completed · 28 cited
  2. Phase 3 A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease Completed · 8 cited
  3. Phase 4 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed
  4. Phase 4 Late-Onset Treatment Study Extension Protocol Completed
  5. Phase 3 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed

Showing the 5 most-cited and recently-updated of 5 trials. Browse the full registry →

Trial data sourced from ClinicalTrials.gov. Counts describe the research landscape and are not a treatment recommendation. Informational only — not medical advice.

What the trials found Updated — new results For clinicians

Late-onset Pompe disease: what the trials found

AT2221 demonstrated a change from baseline in Manual Muscle Testing (MMT) Lower Extremity Scores of 0.6 and 0.4 1. Additionally, patients treated with AT2221 showed changes from baseline in PROMIS-Physical Function scores of -2.7 and -2.5, and changes in PROMIS-Fatigue scores of 1.5 and 1.1 1.

Cipaglucosidase Alfa demonstrated a statistically significant improvement in the 6 Minute Walk Distance (6MWD) from baseline to week 52 (21.31 vs 7.10, p=0.048) 4. Changes in MMT scores for lower extremities were observed at week 52 (1.64 vs 0.68, p=0.095) and at week 26 (16.45 vs 8.28, p=0.097) 4.

Alglucosidase Alfa was evaluated across multiple trials. In one study, it showed a statistically significant mean change from baseline in the Six-minute Walk Test (6MWT) at weeks 0 and 78 (26.08 vs -4.87, p=0.0347) 5. Other reported outcomes for alglucosidase alfa included changes in proximal muscle strength of the lower limbs via Quantitative Muscle Testing (QMT) [3, 5] and physical component scores on the MOS Short Form-36 survey [3, 5].

Biomarker and imaging assessments for Alglucosidase Alfa showed a change from baseline in tissue glycogen content in quadriceps muscle biopsy samples at week 26 (5.3; -1.6, p=0.1860), as well as changes in muscle involvement using Mercuri scoring (2.6; 0.0) and degree of fatty infiltration via 3D Dixon imaging (2.0) 2.

Recent results — preliminary, needs further review

  • AT2221 showed improvements in MMT Lower Extremity scores, PROMIS-Physical Function, and PROMIS-Fatigue 1.

For the clinician treating this condition

  • Cipaglucosidase Alfa demonstrated a statistically significant improvement in 6MWD at week 52 4.
  • Alglucosidase Alfa showed a statistically significant mean change in 6MWT distance over 78 weeks 5.
  • AT2221 is associated with changes in MMT scores and patient-reported outcomes regarding physical function and fatigue 1.

AI synthesis of 4 cited trials, updated Jun 29, 2026. Informational only — not medical advice; trial data sourced from ClinicalTrials.gov. How we use AI.

HCP Mode — summaries include clinical detail, trial data, and statistical outcomes.
Patient Mode — summaries use plain language, avoiding clinical jargon.
Retrospective cohort shows ERT associated with lower mortality in Chinese late-onset Pompe disease patients
Nutrition & Obesity Medicine Cohort
Retrospective cohort shows ERT associated with lower mortality in Chinese late-onset Pompe disease patients Enzyme therapy saves lives in rare muscle disease patients
This retrospective cohort study included 68 Chinese patients with late-onset Pompe disease followed for a 17-year period.
New data shows enzyme therapy drastically lowers death risk for people with late-onset Pompe disease, especially when started early.
Frontiers Apr 28, 2026