Kidney Week

Abstract: FR-PO339

Baseline Characteristics of Patients With Fabry Disease Enrolled in the Pegunigalsidase Alfa Expanded-Access Program

Session Information

• Genetic Diseases: Models, Mechanisms, Treatments
  November 04, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1102 Genetic Diseases of the Kidneys: Non-Cystic

Authors

• Mehta, Ankit, Baylor University Medical Center at Dallas, Dallas, Texas, United States

Ankit Mehta,

• Wilcox, William, Emory University School of Medicine, Atlanta, Georgia, United States

William Wilcox,

• Nedd, Khan J., Infusion Associates, Grand Rapids, Michigan, United States

Khan J. Nedd,

• Bernat, John A., University of Iowa Hospital and Clinics Iowa City, Iowa City, Iowa, United States

John A. Bernat,

• Knoll, Jasmine, Phoenix Children’s Hospital, Phoenix, Arizona, United States

Jasmine Knoll,

• Jefferies, John L., The University of Tennessee Health Science Center, Memphis, Tennessee, United States

John L. Jefferies,

• Longo, Nicola, University of Utah, Salt Lake City, Utah, United States

Nicola Longo,

• Wallace, Eric L., University of Alabama at Birmingham, Birmingham, Alabama, United States

Eric L. Wallace,

• Almon, Einat, Protalix Biotherapeutics, Carmiel, Northern, Israel

Einat Almon,

• Alon, Sari, Protalix Biotherapeutics, Carmiel, Northern, Israel

Sari Alon,

• Chertkoff, Raul, Protalix Biotherapeutics, Carmiel, Northern, Israel

Raul Chertkoff,

• Sullivan, Dawn, Chiesi USA, Inc, Boston, Massachusetts, United States

Dawn Sullivan,

• Rocco, Rossana, Chiesi USA, Inc, Boston, Massachusetts, United States

Rossana Rocco,

• Koulinska, Irene, Chiesi USA, Inc, Boston, Massachusetts, United States

Irene Koulinska,

• Goker-Alpan, Ozlem, Lysosomal & Rare Disorders Research & Treatment Center, Fairfax, Virginia, United States

Ozlem Goker-Alpan,

Background

Fabry disease (FD) is a rare genetic disorder caused by deficiency in lysosomal enzyme, alpha-galactosidase A (α-Gal A), activity. Pegunigalsidase alfa (PA) is a novel PEGylated α-Gal A enzyme replacement therapy in development for FD. An expanded-access program (EAP) is offered in the US to adults with FD that cannot be adequately managed with approved drugs and who are not eligible for clinical trials. Characterizing patients in an EAP is critical to understanding unmet needs.

Methods

We collated baseline characteristics for patients with FD enrolled in the ongoing EAP in the US as of January 1, 2022.

Results

At the data cutoff date, 30 patients had enrolled in the EAP; primarily due to worsening disease symptoms and/or poor tolerability of infusions. There was a mean of 12.9 (SD 11.8) years since diagnosis and most patients had received agalsidase beta treatment (mean duration 7.1 [SD 4.7] years). Median (range) baseline eGFR was 91.4 mL/min/1.73m² (14.1–131.9) and median concentration (range) of plasma globotriaosylsphingosine was 18.1 nM (0.8–134.6)

Conclusion

Assessment of patients in the PA EAP demonstrated gaps in current treatment options for FD. Some patients had experienced persistent symptoms despite treatment and/or poor tolerability of infusions and may benefit from the PA EAP. Follow-up of clinical outcomes from this EAP will be monitored and presented as data become available.

Funding

• Commercial Support –