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  1. Center for Drug Evaluation and Research | CDER

Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine-Division of Rare Diseases and Medical Genetics (DRDMG)

The Division of Rare Diseases and Medical Genetics (DRDMG) serves as a hub for rare disease drug development across the Office of New Drugs by coordinating rare disease education, policy, research and stakeholder engagement. DRDMG also regulates Investigational New Drug Applications (INDs), New Drug Applications (NDAs), and Biologics License Applications (BLAs) for drugs and biologics intended for the prevention and treatment of rare inborn errors of metabolism including:

  • Amino Acid Metabolism Disorders
    • Phenylketonuria (PKU)
    • Maple Syrup Urine Disease (MSUD)
    • Homocystinuria
    • Tyrosinemia
    • Urea cycle disorders (e.g., citrullinemia, argininosuccinic aciduria, ornithine transcarbamylase deficiency)
  • Lipoprotein Metabolism Disorders
    • Lecithin Cholesterol Acyltransferase (LCAT) Deficiency
  • Organic Acid Disorders (Organic Acidemias)
    • Propionic acidemia
    • Methylmalonic acidemia
    • Glutaric acidemia
  • Lysosomal Storage Diseases
    • Glycogen storage diseases (e.g., Pompe disease)
    • Mucopolysaccharidoses (e.g., Hurler syndrome, Hunter syndrome, Sanfilippo syndrome Morquio syndrome, Maroteax-Lamy syndrome, Sly syndrome)
    • Mucolipidoses
    • Oligosaccharidoses (e.g., alpha- and beta-mannosidoses, Schindler disease)
    • Lipidoses (e.g., Niemann-Pick types C and D, neuronal ceroid lipofuscinoses, lysosomal acid lipase deficiency)
    • Sphingolipidoses (e.g., Niemann-Pick type A and B, Gaucher disease, Krabbe disease, Fabry disease, GM1 and GM2 gangliosidoses, metachromatic leukodystrophy, Farber disease)
    • Lysosomal transport diseases (e.g., cystinosis)
  • Mitochondrial disorders
    • Disorders of pyruvate carboxylase and pyruvate dehydrogenase complex
    • Leigh syndrome
    • Barth syndrome
    • Disorders of mitochondrial depletion
    • Mitochondrial fatty acid oxidation disorders
    • Primary carnitine deficiency
  • Peroxisomal disorders
    • Peroxisomal enzyme deficiencies
    • X-linked adrenoleukodystrophy
  • Bile acid synthesis disorders
    • Cerebrotendinous Xanthomatosis
  • Others
    • Hereditary Orotic Aciduria
    • Progeria
    • Menkes syndrome
    • Cockayne syndrome
    • Congenital disorders of glycosylation
    • Hypophosphatasia
    • Cerebral creatine deficiency syndromes

Meetings and Workshops

Rare Diseases Information
 
Director: Kathleen (Katie) Donohue, M.D. 
Deputy Director: Patroula Smpokou, M.D. 
Associate Director for Rare Diseases: Kerry Jo Lee, M.D. (Acting).
Deputy Director for Safety: Vacant
 
Regulatory Operations
Chief of Project Management Staff: Michael White, Ph.D.

Contact Us

Mailing Address:

Food and Drug Administration
Center for Drug Evaluation and Research
Office of New Drugs
Division of Rare Diseases and Medical Genetics
10903 New Hampshire Avenue
Silver Spring, MD 20993
Main Line: 301-796-2200   
Fax: 301-796-9744 

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