Observing the natural history of hypophosphatasia
Natural History Study of Adult and Pediatric Patients With Hypophosphatasia
This study is tracking patients with hypophosphatasia to better understand how the condition affects them and how it runs in families.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Trial ID | NCT02237625 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are patients with a confirmed clinical diagnosis of hypophosphatasia.
Not a fit: Patients without a confirmed diagnosis of hypophosphatasia will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights that lead to improved care and treatment strategies for patients with hypophosphatasia.
How similar studies have performed: While the rarity of hypophosphatasia presents unique challenges, similar observational studies have successfully contributed to understanding other rare diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Durham, North Carolina
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.