Natural History Study of Patients With Hypophosphatasia (HPP) (NCT02237625)
Natural History Study of Adult and Pediatric Patients With Hypophosphatasia
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: Duke University Medical Center — Durham, North Carolina
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- Duke University Medical Center — Durham, North Carolina
📞 Contact the Study Coordinator
Phone: (919) 681-7962
Email: janet.blount@duke.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Hypophosphatasia
- Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa — Indianapolis, Indiana
- Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP — Baltimore, Maryland
- Phase 3 Study of ALXN1850 in Pediatric Participants With HPP Previously Treated With Asfotase Alfa — Hartford, Connecticut
- A Prospective Sub-Study of the Global Hypophosphatasia Registry — Hartford, Connecticut
Explore by condition: All Hypophosphatasia clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.