Principal Investigator: Nicola Longo
Keywords: Fabry , PRX-102 Department: Pediatric Genetics
IRB Number: 00116015
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Completed

Contact Information

Carrie Bailey

Brief Summary

OBJECTIVES: To evaluate the ongoing safety and efficacy parameters of 2 mg/kg pegunigalsidase alfa every 4 weeks in adult Fabry patients.

This is an open-label study to assess the safety and efficacy of pegunigalsidase alfa treatment of 2 mg/kg every 4 weeks.

The duration of treatment will be up to 36 months or until pegunigalsidase alfa is available to the patient or at the discretion of the Sponsor.

In the case of clear clinical deterioration, the treatment may be changed to 1 mg/kg every 2 weeks at the Investigator’s discretion and discussion with the Medical Monitor.


  • Estimated glomerular filtration rate (eGFRCKD-EPI)
  • Left Ventricular Mass Index (g/m2) by magnetic resonance imaging (MRI)
  • Plasma Lyso-Gb3 concentration
  • Plasma Gb3 concentration
  • Protein/Creatinine ratio, spot urine test (UPCR)
  • Frequency of pain medication use
  • Exercise tolerance (Stress Test)
  • Short Form Brief Pain Inventory (BPI)
  • Mainz Severity Score Index (MSSI)
  • Quality of life (EQ-5D-5L)
  • Fabry disease Clinical events

Inclusion Criteria

1. Completion of study PB-102-F50.
2. The patient signs informed consent.
3. Female patients and male patients whose co-partners are of child-bearing potential agree to use a medically accepted, highly effective method of contraception. These include combined (estrogen- and progestogen-containing) hormonal contraception associated with inhibition of ovulation (oral, intravaginal, or transdermal), progestogen-only hormonal contraception associated with inhibition of ovulation (oral, injectable, or implantable), intrauterine device (IUD), intrauterine hormone-releasing system (IUS), bilateral tubal occlusion, vasectomised partner, or sexual abstinence.

Exclusion Criteria

The following criteria excludes a patient from study enrollment: Presence of any medical, emotional, behavioral, or psychological condition that, in the judgment of the Investigator and/or Medical Director, would interfere with patient compliance with the requirements of the study.

Medications having the potential to interfere with the evaluation of efficacy are excluded throughout the trial.

The following medications are strictly prohibited during the study:

•       Fabrazyme® (agalsidase beta)  

•       Replagal® (agalsidase alfa)

•       Galafold™ (migalastat)

•       Any other investigational drug for treating Fabry disease