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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hypophosphatasia


Other Names for this Disease
  • Phosphoethanol-aminuria
  • Hypophosphatasia mild
  • Phosphoethanolaminuria
  • Rathburn disease
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Treatment

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How might hypophosphatasia be treated?

Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition.[1] For example:
  • Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia
  • Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds
  • Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty
  • Surgery for fractures that fail to heal
More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 6–12 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems.[1] Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP.[2] In October of 2015 the FDA approved asfotase alfa, sold as Strensiq.[3]

Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.[1]
Last updated: 2/1/2016

References
  1. Bishop N. Clinical management of hypophosphatasia. Clin Cases Miner Bone Metab. May-August 2015; 12(2):170-173.
  2. Scott LJ. Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia. Drugs. February, 2016; 76(2):255-262.
  3. Morrow T. Expensive New Biologic Helps Children Fight Hypophosphatasia. Manag Care. December, 2015; 24(12):25-26. http://www.managedcaremag.com/linkout/2015/12/25.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Hypophosphatasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Asfotase alfa
Trade Name
(Manufacturer Name)
Strensiq
(Alexion Pharmaceuticals, Inc.)
Indication
The FDA has approved this product to be used in this manner.
For the treatment of patients with perinatal/infantile-and juvenile-onset hypophosphatasia (HPP).
More Information about this product Drug Information Portal

Other Names for this Disease
  • Phosphoethanol-aminuria
  • Hypophosphatasia mild
  • Phosphoethanolaminuria
  • Rathburn disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.