Natural History Study of Adult and Pediatric Patients With Hypophosphatasia

Status: Recruiting
Location: See location...
Study Type: Observational [Patient Registry]

Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP) isozyme, resulting in decreased serum and bone alkaline phosphatase levels. To date, over 250 different mutations in the gene encoding TNSALP have been associated with HPP. Clinically, the loss of TNSALP function results in progressive skeletal impact as well as progressive impact on all other major organ systems. It clinically manifests as rickets in infants and children and osteomalacia at all ages. The severe form of the disease has been estimated to have a prevalence of about 1 in every 100,000 live births.

Participation Requirements
Sex: All
Healthy Volunteers: No

• Patients or their legal representative must provide written informed consent or, if applicable, qualify for waiver of consent.

• Patients must have a pre-established clinical diagnosis of HPP, as indicated by one or more of the following:

• Serum alkaline phosphatase (ALP) below the age-adjusted normal range

• Plasma PLP at least twice the upper limit of normal (no vitamin B6 administered for at least 1 week prior to determination)

• Evidence of osteopenia or osteomalacia on skeletal radiographs

• Genetic analysis fof the ALPL gene

• Must be current patient in the Duke University System.

United States
North Carolina
Duke University Medical Center
Contact Information
Janet G Blount, BA
Time Frame
Start Date: September 2014
Estimated Completion Date: September 2026
Target number of participants: 200
Medical History of HPP Patients
Patient clinical data will be collected related to the diagnosis, onset, progression, treatment course and outcome for patients with HPP.
Related Therapeutic Areas
Leads: Duke University

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