TABLE 2-2Examples of Currently Available Treatments or Treatments in Development for Rare Diseases

Therapeutic CategoryTreatment ExampleRare Condition
Small-molecule compoundsImatinibChronic myelogenous leukemia
Protein therapiesEnzyme replacement therapyGaucher disease
Metabolic therapiesSodium phenylbutyrateUrea cycle disorders
Nutritional therapiesPhenylalanine-restricted dietPhenylketonuria
Environmental modification or adaptationAvoidance of sunlightXeroderma pigmentosa
Medical proceduresPhlebotomyHemochromatosis
Surgical proceduresOpen heart surgeryTetralogy of Fallot
Medical devicesOrthopedic implantThoracic insufficiency (e.g., Jeune syndrome)
Organ transplantsCombined liver-kidney transplantPrimary hyperoxaluria
Bone marrow or cord blood transplantsBone marrow or cord blood transplantHurler syndrome
Stem cell transplants (investigational)Neural stem cell transplantNeuronal ceroid lipofuscinosis
Genetic therapies (investigational)Exon skippingDuchenne muscular dystrophy

From: 2, Profile of Rare Diseases

Cover of Rare Diseases and Orphan Products
Rare Diseases and Orphan Products: Accelerating Research and Development.
Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, editors.
Washington (DC): National Academies Press (US); 2010.
Copyright © 2010, National Academy of Sciences.

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