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Dr. Paul Harmatz is a gastroenterologist who specializes in mucopolysaccharidoses (MPS) and other lysosomal storage diseases (genetic disorders in which a lack of certain enzymes results in progressive damage to cells and organ systems). He leads a team of specialists who diagnose and care for patients with these rare diseases, offering therapies such as weekly enzyme infusion.

Harmatz's research focuses in particular on promising new treatments for MPS disease. He has led clinical trials to evaluate treatments for a variety of MPS and other lysosomal storage diseases, resulting in approval from the Food and Drug Administration for five specific treatments. He also led the first trial on a drug to treat mucopolysaccharidosis type VI (also called Maroteaux-Lamy syndrome or MPS VI). In addition, he led a trial in which genome editing was done inside a human body for the first time in an effort to change the DNA of a patient with mucopolysaccharidosis type II (also known as Hunter syndrome or MPS II).

Harmatz earned his medical degree from Dartmouth Geisel School of Medicine. He completed a residency in pediatrics at Harbor – UCLA Medical Center, followed by a fellowship in pediatric gastroenterology and nutrition at Massachusetts General Hospital. Prior to joining UCSF, he served on the faculty of Harvard Medical School for 12 years.

Harmatz is a member of the Society for the Study of Inborn Errors of Metabolism, Society for Inherited Metabolic Disorders and American Society of Gene & Cell Therapy. In 2017, UCSF awarded him a medical science career achievement award.

  • Education

    Geisel School of Medicine, MD, 1976

  • Residencies

    Harbor – UCLA Medical Center, Pediatrics, 1979

  • Fellowships

    Massachusetts General Hospital, Pediatric Gastroenterology and Nutrition, 1982

  • Academic Title

    Professor

I treasure the opportunity to form meaningful relationships with MPS patients and their families, and to offer support as we learn more about these challenging diseases.

Where I see patients (1)

    Decorative Caduceus

    Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Synd...

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    Decorative Caduceus

    A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis...

    Serum samples will be collected for evaluation of anti-idursulfase antibodies including binding antibodies and neutralizing antibodies. Analysis of anti-idursulfase antibodies will be conducted using validated 3-tier immunoassay m...

    Recruiting

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    Decorative Caduceus

    A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)

    Recruiting

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