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Clinical Trial Summary

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.


Clinical Trial Description

Inheritance can be autosomal recessive or dominant, and penetrance is variable resulting in a wide range of clinical expressivity, with a spectrum ranging from stillbirth without mineralized bone to early loss of teeth without bone symptoms. Depending on the age at diagnosis six clinical forms are currently recognized: perinatal (lethal), perinatal benign, infantile, childhood, adult and odontohypophosphatasia. Severe forms of HPP (perinatal and infantile) are inherited as an autosomal recessive trait and in milder forms (adult and odontohypophosphatasia) autosomal recessive and autosomal dominant inheritance coexist. Because of the rarity of HPP as well as the side spectrum of both clinical presentation and inheritance patterns of the HPP trait, a natural history study cataloging specific clinical data with HPP would prove invaluable for future research into this disease. Specifically, it is our goal to create a comprehensive multi-discipline modality for care for hypophosphatasia patients, researching clinical manifestations of the disease such as extent of bone disease, ophthalmologic manifestations, orthopedic issues, renal issues, musculoskeletal manifestations as well as other more anecdotal findings such as those seen with cochlear implant failures and/or early menopause. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02237625
Study type Observational [Patient Registry]
Source Duke University
Contact Janet G Blount, BA
Phone 919-681-7962
Email janet.blount@duke.edu
Status Recruiting
Phase
Start date September 2014
Completion date September 2028

See also
  Status Clinical Trial Phase
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Completed NCT02291497 - Burden of Disease in Hypophosphatasia (HPP) N/A
Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Active, not recruiting NCT04195763 - Patient Reported Outcomes in Adults With Pediatric-onset Hypophosphatasia Treated With Strensiq® (Asfotase Alfa)
Not yet recruiting NCT05596539 - Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Completed NCT02796885 - Characterisation of Adult-Onset Hypophosphatasia
Completed NCT02751801 - Health Burden of Hypophosphatasia
Completed NCT05890794 - Pilot Trial of Single Dose Ilofotase Alfa in Hypophosphatasia Phase 1/Phase 2
Recruiting NCT06079359 - Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP Phase 3
Recruiting NCT05234567 - A Prospective Sub-Study of the Global Hypophosphatasia Registry
Completed NCT02797821 - Pharmacokinetic and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Phase 2
Completed NCT01163149 - Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Phase 2
Completed NCT04925804 - Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)
Completed NCT02531867 - Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Phase 4
Completed NCT01406977 - Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Phase 2
Recruiting NCT01793168 - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Completed NCT01176266 - Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Phase 2/Phase 3
Withdrawn NCT00894075 - Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Phase 2
Active, not recruiting NCT04222452 - The PORTRAIT Study
Recruiting NCT06079281 - Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa Phase 3