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Medications
We’ve helped to redefine care in these rare and devastating diseases.
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
Acute Hepatic Porphyria (AHP)
Alagille Syndrome – (ALGS)
Amyotrophic Lateral Sclerosis (ALS)
Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis (AAV)
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
BBS and POMC/ LEPR/ PCSK1 Deficiency Obesities
Central Precocious Puberty (CPP)
Dravet Syndrome – Severe Myoclonic Epilepsy Infancy (SMEI)
Endogenous Cushing’s Syndrome (CS)
Epidermolysis Bullosa (EB)
Gastrointestinal Stromal Tumors (GIST)
Generalized Myasthenia Gravis (gMG)
Hereditary Transthyretin Amyloidosis (hATTR)
Huntington’s Disease (HD)
Hypophosphatasia (HPP)
Infantile Spasms (IS)
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
Lupus Nephritis (LN)
Mycobacterium avium complex (MAC) lung disease
Narcolepsy
Nighttime Sleep Disturbances in Smith-Magenis Syndrome (SMS)
Non-24-Hour Sleep-Wake Rhythm Disorder (N24SWD)
Paroxysmal Nocturnal Hemoglobinuria (PNH)
Perivascular Epithelioid Cell Tumor (PEComa)
Primary Hyperoxaluria Type 1 (PH1)
Primary Periodic Paralysis (PPP)
Progressive Familial Intrahepatic Cholestasis (PFIC)
Tardive Dyskinesia (TD)
Tumor Induced Osteomalacia (TIO)
Type I Gaucher Disease
Wilson Disease
X-Linked Hypophosphatemia (XLH)