Natural History Study of Patients With Hypophosphatasia (HPP)

Conditions

• Hypophosphatasia

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Sep 30, 2014

Status verified

Mar 2026

Primary completion

Sep 30, 2027

Completion

Sep 30, 2028

Study Design

Enrollment

200 participants (estimated)

Arms

• Arm: 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

• Janet G Blount, BA
  919-681-7962
  [email protected]

Locations (1)

Find similar trials in Durham, NC

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