Natural History Study of Patients With Hypophosphatasia (HPP)

NCT02237625 | Recruiting DMC

• 1 other identifier: Pro00049204
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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

Keywords

Hypophosphatasia; HPP

Outcome Measures

Primary Outcomes (1)

• 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

  100 years

Secondary Outcomes (3)

• long-term efficacy of treatment modalities

  100 years

• potential long term complications of the disease and/or treatment

  100 years

• quality of life issues for patients living with hypophosphatasia

  100 years

Study Arms (1)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Up to 100 minor and 100 adult subjects will be enrolled into this natural history study.

You may qualify if:

• 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.

You may not qualify if:

• Any patient without confirmation of clinical diagnosis of HPP.

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

RECRUITING

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Priya Kishnani, MD

  Duke University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Janet G Blount, BA

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 100 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 9, 2014
• First Posted: September 11, 2014
• Study Start: September 1, 2014
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): September 1, 2028
• Last Updated: March 5, 2026

Record last verified: 2026-03

Locations

US (1)