Observing the natural history of hypophosphatasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on patients diagnosed with hypophosphatasia (HPP), a rare inherited metabolic disorder affecting bone and teeth mineralization. It aims to catalog specific clinical data related to the disease, including its various manifestations and inheritance patterns. By collecting comprehensive information on the clinical presentation of HPP, the study seeks to enhance understanding and improve future research efforts in managing this condition. The study will involve patients from the Duke University System who meet specific diagnostic criteria.

Why it matters

Who can join: the full rules

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.

Where it's running

• Duke University Medical Center
  Durham, North Carolina, United States Recruiting

Study contacts

• Principal investigator: Priya Kishnani, MD — Duke University
• Study coordinator: Janet G Blount, BA
• Email: janet.blount@duke.edu
• Phone: 919-681-7962

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• How a single ALPL gene change affects hypophosphatasia over time in Russia

  This observational study will follow children and adults with hypophosphatasia who carry one ALPL gene variant to see how their symptoms and health change during routine care in Russia.

  Recruiting at 3 sites AstraZeneca · Moscow and 3 other locations · NCT07390240

• Understanding Hypophosphatasia in Adults with Rheumatology Issues

  This study is trying to learn more about adults with hypophosphatasia who have joint and bone issues to help improve how they are diagnosed and treated.

  Recruiting University of Bonn · Bonn, North Rhine-Westphali · NCT06574282

• Registry of adults with hypophosphatasia

  This study is tracking adults with hypophosphatasia to see how the condition affects their bone health and symptoms over time.

  Recruiting at 11 sites Assistance Publique - Hôpitaux de Paris · Bordeaux, France and 10 other locations · NCT05596539

• Observational study of pediatric hypophosphatasia patients receiving treatment

  This study is tracking kids with hypophosphatasia who are being treated with asfotase alfa to see how the treatment affects them over at least five years.

  Recruiting at 10 sites Alexion Pharmaceuticals, Inc. · Hartford, Connecticut and 11 other locations · NCT05234567

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

• Understanding the disease burden of hypophosphatasia in Chinese patients

  This study tests how hypophosphatasia affects people in China by collecting real-world data on symptoms, quality of life, and costs.

  Recruiting AstraZeneca · Beijing and 21 other locations · NCT07905287

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.