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Home › Conditions › Fabry disease

Fabry disease

Part of Cerebral small vessel disease

1 published article · Updated continuously

Clinical Trial Landscape

Clinical Trials for Fabry disease

40 trials tracked for Fabry disease: 20 in phase 3 or 4 and 8 with published results. The most-cited published study has 559 citations.

40Trials tracked
20Phase 3 & 4
0Recruiting
8With published results
Phase distribution
Phase 4 4 Phase 3 16 Phase 2 16 Phase 1 1 Other / NA 3
  1. Phase 3 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed · 559 cited
  2. Phase 3 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed · 387 cited
  3. Phase 3 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed · 167 cited
  4. Phase 3 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Completed · 43 cited
  5. Phase 3 Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Completed · 31 cited
  6. Phase 3 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Completed · 13 cited
Show 34 more trials
  1. Phase 3 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Completed · 4 cited
  2. Phase 3 Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks Completed
  3. Phase 4 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed
  4. Phase 4 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed
  5. Phase 4 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed
  6. Phase 4 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed
  7. Phase 3 Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) Completed
  8. Phase 3 Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease Completed
  9. Phase 3 A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease Completed
  10. Phase 3 Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease Completed
  11. Phase 3 Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease Completed
  12. Phase 3 Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease Completed
  13. Phase 3 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed
  14. Phase 3 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed
  15. Phase 2 A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed
  16. Phase 2 A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease Completed
  17. Phase 2 A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed
  18. Phase 2 Safety Study of Replagal® Therapy in Children With Fabry Disease Completed
  19. Phase 2 A Study of Fabrazyme in Pediatric Patients With Fabry Disease Completed
  20. Phase 2 Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR) Completed
  21. Phase 2 Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease Completed
  22. Phase 2 Extension Study of PRX-102 for up to 60 Months Completed
  23. Phase 2 This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. Completed
  24. Phase 2 Dosing Study of Replagal in Patients With Fabry Disease Completed
  25. Phase 2 Replagal Enzyme Replacement Therapy for Children With Fabry Disease Completed
  26. Phase 2 A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Completed
  27. Phase 2 Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease Completed
  28. Phase 2 Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease Completed
  29. Phase 2 Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients Completed
  30. Phase 2 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed
  31. Phase 1 PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion Completed
  32. N/A A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy. Completed
  33. N/A Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients Completed
  34. N/A Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Completed

Showing the 40 most-cited and recently-updated of 40 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

Fabry disease: what the trials found

Newer treatments for Fabry disease include pegunigalsidase alfa, which demonstrated a change of 0.6 in the Mainz Severity Score Index (MSSI) and 0.9 in the EuroQoL Visual Analog Scale (EQ VAS) 1. Additionally, migalastat hydrochloride was evaluated across multiple trials; it showed improvements in FABPRO-GI and pain scores 19, and a reduction of -1.3 in Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ) score for pain intensity over 24 months 15. Lucerastat demonstrated a significant reduction in plasma Globotriaosylceramide (Gb3) levels from baseline to month 6 (p<0.0001) 17.

Agalsidase beta and its variants have been extensively studied. Agalsidase beta showed statistically significant reductions in Lyso-Gb3 serum levels (p=0.01) 2 and a reduction of approximately 31.7% in plasma Deacylated Globotriaosylceramide (Lyso-GL-3) at month 2 5. Clinical observations with agalsidase beta included reductions in left ventricular mass (LVM) by -4.14% 4, improvements in the Albumin/Creatinine (A/Cr) ratio 21, and a significant improvement in inverse serum creatinine slopes compared to placebo (p=0.0130) 7. Replagal was associated with reductions in Left Ventricular Mass Index (LVMI) 16 and changes in the Minnesota Living With Heart Failure Questionnaire (MLHF-Q) summary score 21.

Other interventions include agalsidase alfa 14 and PRX-102 (pegunigalsidase alfa), which was associated with a reduction in the Urine Protein/Creatinine Ratio (UPCR) from 76 to 8 11.

Recent results — preliminary, needs further review

  • * ST-920 was evaluated in a Phase 2 trial 3.

For the clinician treating this condition

  • Pegunigalsidase alfa is associated with improvements in the Mainz Severity Score Index and EQ VAS scores 1.
  • Agalsidase beta and related therapies demonstrate efficacy in reducing Lyso-Gb3 levels, improving cardiac metrics like LVMI, and improving renal markers such as the A/Cr ratio [2, 4, 5, 7, 21].
  • Migalastat hydrochloride has shown a reduction in pain intensity scores in pediatric populations and significant reductions in plasma Gb3 levels [15, 17].

AI synthesis of 13 cited trials, updated Jun 22, 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.
Inflammatory cytokines correlate with vestibular-oculomotor dysfunction in Fabry disease patients
Allergy & Immunology Cohort
Inflammatory cytokines correlate with vestibular-oculomotor dysfunction in Fabry disease patients Could a blood marker signal eye movement trouble in Fabry disease?
This prospective observational cohort study of 40 Fabry disease patients found significant correlations between specific inflammatory cytoki…
Higher blood inflammation markers in Fabry disease patients are linked to specific eye movement problems like slower eye jumps and less accu…
Frontiers Apr 19, 2026