Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT02237625

Conditions

Hypophosphatasia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Hypophosphatasia

Study ID

NCT02237625

Start date

Sep, 2014

Status verified date

Mar, 2026

Completion date

Sep, 2028

Anticipated

Primary completion date

Sep, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • Any patient without confirmation of clinical diagnosis of HPP.

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Medical History of HPP Patients [ Time Frame: 100 years ]

Central Contacts and Locations

Central contacts

Janet G Blount, BA

919-681-7962janet.blount@duke.edu

Locations

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Priya Kishnani, MD

919-681-1939kishn001@mc.duke.edu

Stephanie DeArmey, PA-C

(919) 681-1946dearm001@mc.duke.edu

More Information

Sponsor

Duke University

Last update posted

Mar 5, 2026

Last verified

Mar, 2026

Keywords

  • Hypophosphatasia
  • HPP

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2026-03-05.