Rare Disorders

Type I Gaucher Disease

Epidermolysis Bullosa (EB)

Generalized Myasthenia Gravis (gMG)

Huntington’s Disease (HD)

Indolent Systemic Mastocytosis (ISM)

Alagille Syndrome – (ALGS)

Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)

Generalized Myasthenia Gravis (gMG)

Hereditary Transthyretin Amyloidosis (hATTR)

Wilson Disease

Hereditary Transthyretin Amyloidosis (hATTR)

Dravet Syndrome – Severe Myoclonic Epilepsy Infancy (SMEI)

Advanced Systemic Mastocytosis (AdvSM)

Acute Hepatic Porphyria (AHP)

Amyotrophic Lateral Sclerosis (ALS)

Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis (AAV)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Central Precocious Puberty (CPP)

Endogenous Cushing’s Syndrome (CS)

Gastrointestinal Stromal Tumors (GIST)

Gastrointestional Stromal Tumors (GIST)

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)

BBS and POMC/ LEPR/ PCSK1 Deficiency Obesities

Primary Hyperoxaluria Type 1 (PH1)

Primary Periodic Paralysis (PPP)

Progressive Familial Intrahepatic Cholestasis (PFIC)

Tardive Dyskinesia (TD)

Tumor Induced Osteomalacia (TIO)

X-Linked Hypophosphatemia (XLH)

Soon to Be Announced

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