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Research/Clinical Trials (Investigator-initiated studies only)

The Natural History of Mucolipidosis Type IV

Fabry Screening Study

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease


018-706 A One Visit Follow Up of Adults with Fabry Disease who Started Long-term Enzyme Replacement Therapy As Children

LEAP Adult Gaucher A 156-week, two-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3

MODIFY. A multicenter, double-blind, randomized, placebo controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease.

PB-102-F50. A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pengunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy: Fabrazyme® (agalsidase beta) or Replagal (agalsidase alfa)

F20 Balance Study A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated with Agalsidase Beta – Study Number PB-102-F20


​Dr. Schiffmann has contributed over 260 peer-reviewed articles in national and international publications that have paved the way for increased knowledge of metabolic diseases and the methods used to diagnose and treat them.

Click here to see Dr. Schiffmann's work and contributions.

Click here to see Dr. Schiffmann's Google Scholar publications.