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2724 : Farber Disease (Acid Ceramidase Deficiency): The First Natural History Study of This Rare Disease Involving Symptoms Which Can Mimic JIA

Researchers

Presenter

  • Erik Sundberg

Principal Investigators

  • Christina Grant

  • Carlos Ferreira

  • Paul Harmatz

  • Neslihan Mungan

  • Fatma Bulut

  • Christina Lampe

  • Andreas Hahn

  • Norberto Guelbert

  • Nur Arslan

  • Balahan Makay

  • Ratna Puri

  • Sunita Bijarnia-Mahay

  • Laila Selim

  • Iman Gamal el Din

  • Seema Kapoor

  • Maja DiRocco

  • Seza Ozen

  • Ezgi Batu

  • Gulden Gokcay

  • Marta Torcoletti

  • Alan Kimura

  • Bo Magnusson

Medical Centers

  • Enzyvant, Basel, Switzerland

  • Karolinska University Hospital, Stockholm, Sweden

  • The Montreal Childrens Hospital, Montreal, Canada

  • Children's Natl Medcl Ctr, Washington, DC

  • Children's Natl Medcl Ctr, Washington, DC

  • UCSF Benioff Childrens Hospital Oakland, Oakland, CA

  • cukurova University, Adana, Turkey

  • University Hospital of Essen, Essen, Germany

  • Private Hospital of Cordoba, Cordoba, Argentina

  • Dokuz Eylul University, Izmir, Turkey

  • Sir Ganga Ram Hospital, New Delhi, India

  • Cairo University Children's Hospital, Cairo, Egypt

  • 13Lok Nayak Hospital and Maulana Azad Medical College, Delhi, India

  • Istituto Giannina Gaslini, Genoa, Italy

  • Hacettepe University, Ankara, Turkey

  • Istanbul University, Istanbul, Turkey

  • University of Milan, Milan, Italy

  • Enzyvant, Cambridge, MA

Locations

  • Switzerland

  • Sweden

  • Canada

  • United States

  • Turkey

  • Germany

  • Argentina

  • India

  • Egypt

  • Italy

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

Disease

  • Farber lipogranulomatosis

Biomarkers

  • N/A

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Observational

  • Prospective

  • Cross-Sectional

  • Cohort

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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