Health TrialsbyHealthPanel

Natural History Study of Patients With Hypophosphatasia (HPP)

ConditionHypophosphatasia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorDuke University

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

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

Disqualifiers

Any patient without confirmation of clinical diagnosis of HPP.

Trial population

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

Trial design

Design model

Family-based

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

200 Participants
are grouped into 1 trial group
Group A: Medical History of HPP Patients

Trial outcomes

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

Time frame
100 years

Secondary outcomes

1

long-term efficacy of treatment modalities

Time frame
100 years
2

potential long term complications of the disease and/or treatment

Time frame
100 years
3

quality of life issues for patients living with hypophosphatasia

Time frame
100 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Duke University

Lead sponsor

Source ClinicalTrials.gov
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