Department of Pediatrics
USF Health · College of Medicine
RCDCN Navigation: About RDCRN | Diseases Being Studied | Enrollment Sites

Diseases Being Studied

Urea Cycle Disorders Consortium

  • N-Acetylglutamate Synthase (NAGS) Deficiency
  • Carbamyl Phosphate Synthetase (CPS) Deficiency
  • Ornithine Transcarbamylase (OTC) Deficiency
  • Argininosuccinate Synthetase Deficiency (Citrullinemia I)
  • Citrin Deficiency (Citrullinemia II)
  • Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
  • Arginase Deficiency ( Hyperargininemia)
  • Ornithine Translocase Deficiency (HHH) Syndrome

Angelman, Rett, and Prader-Willi Syndromes Consortium

  • Angelman's Syndrome
  • Rett Syndrome
  • Prader-Willi Syndrome

Consortium for Clinical Investigation of Neurological Channelopathies

  • Andersen-Tawil Syndrome (Periodic paralysis)
  • Episodic Ataxias
  • Non-dystrophic Myotonic Disorders

Bone Marrow Failure Disease Consortium

  • Aplastic Anemia
  • Myelodysplastic Syndromes
  • Paroxysmal Nocturnal Hemoglobinuria (PNH)
  • Large Granular Lymphocyte (LGL) Leukemia
  • Single Lineage Cytopenias:
    • Pure Red Cell Aplasia
    • Amegakaryocytic Thrombocytopenic Purpura
    • Autoimmune Neutropenia

      Cholestatic Liver Disease Consortium

    • PFIC (Progressive Familial Intrahepatic Cholestasis)
    • Bile Acid Synthesis Defects
    • Alagille Syndrome
    • Alpha One Antitrypsin Deficiency
    • Mitochondrial Hepatopathies

        • Vasculitis Clinical Research Consortium

        • Wegener’s Granulomatosis (WG)
        • Microscopic Polyangiitis (MPA)
        • Churg-Strauss Syndrome (CSS)
        • Polyarteritis Nodosa (PAN)
        • Takayasu's Arteritis (TAK)
        • Giant Cell (Temporal) Arteritis (GCA)

          Rare Genetic Steroid Disorders Consortium

        • Congenital Adrenal Hyperplasia
        • Androgen Receptor Defects
        • Apparent Mineralocorticoid Excess (Low Renin Hypertension)

          Rare Thrombotic Diseases Consortium

        • Antiphospholipid Antibody Syndromes (APS)
        • Heparin-induced Thrombocytopenia (HIT)
        • Paroxysmal Nocturnal Hemoglobinuria (PNH)
        • Catastrophic Antiphospholipid Antibody Syndrome (Thrombotic Storm)
        • Thrombotic Thrombocytopenic Purpura (TTP)

          Rare Lung Diseases Consortium

        • Hereditary Interstitial Lung Disease (hILD)
        • Lymphangioleiomyomatosis (LAM)
        • Pulmonary Alveolar Proteinosis (PAP)
        • Alpha-1 Antitrypsin Deficiency (Alpha-1)

          Genetic Diseases of Mucociliary Clearance Consortium

        • Primary Ciliary Dyskinesia (PCD)
        • Cystic Fibrosis
        • Pseudohypoaldosteronism (PHA)