Connect hypophosphatasia (HPP) with high burden of disease

Patients with HPP may experience devastating life-limiting consequences.1,2

Adults Children & Adolescents Neonates & Infants
Adult patient sitting in walking boot

Patient image is hypothetical

Adult patients with HPP experience physical and psychological challenges regardless of age of onset, including2*:

  • Pain requiring medication, including opioids
  • Disability requiring assistive devices
  • Quality of life (QoL) ratings worse than those of the general population
95 percent of patients reported pain. 76 percent said bone pain was severe enough to limit activity
74 & 81 percent of patients reported inability to climb and descend stairs respectively
78 percent had difficulty walking
Greater than 50 percent of patients with HPP reported their health problems negatively affected their physical and mental functioning

*Data from the Global HPP Registry, an observational, longitudinal, multinational, long-term study of patients ≥18 years with a confirmed diagnosis of HPP using physician-entered medical record data from consenting patients (N=304).

†Data collected from patients and caregivers via 2 survey instruments (web-based and phone interviews) to evaluate patient-reported symptomatology and burden of disease of HPP (N=125).

References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Seefried L, et al. J Bone Miner Res. 2020;35(11):2171-2178. doi: 10.1002/jbmr.4130 3. Weber TJ, et al. Metabolism. 2016;65(10):1522-1530. doi: 10.1016/j.metabol.2016.07.006

Boy holding knee in pain

Patient image is hypothetical

Pediatric patients experience a wide variety of multisystemic consequences and behavioral challenges that impact quality of life (QoL)1-3:

According to a cross-sectional, survey-based study of parents/caregivers of children with HPP under the age of 18 years (N=30):

  • Pain associated with skeletal and muscular symptoms interfered with typical daily activities for some children (7/24)
  • Children with HPP (13/30) had clinically significant scores on a depression scale
  • Sleep, pain, and mood/anxiety disturbances were accompanied by reduced QoL in nearly all cases
50 percent had clinically meaningful impairment, as reported by parents
57 percent were classified as poor sleepers
29 percent of school-aged children experienced pain that interfered with daily activities

References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Hӧgler W, et al. BMC Musculoskelet Disord. 2019;20(1):80. doi: 10.1186/s12891-019-2420-8 3. Pierpont E, et al. Orphanet J Rare Dis. 2021;16(1):80. doi: 10.1186/s13023-021-01722-7

Baby

Patient image is hypothetical

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Neonates and infants with HPP have a high risk of mortality and failure to thrive, making early and accurate diagnosis critical1-4

  • Respiratory failure is the most common cause of death in neonates and infants with HPP1,2
  • Infants often experience rickets-like chest deformity, fractures, seizures, craniosynostosis, and failure to thrive1,4
  • Skeletal and other multisystemic complications can place significant functional burden on patients immediately or later in life1,4-8
    • Missed milestones and developmental delays
    • Limited functionality and mobility
    • Severe chronic pain
    • Significant disability and difficulty with activities of daily living
73 percent of cases with untreated HPP die before the age of 5. 58% of untreated infants resulted in death by 1 year of age 
64 percent required respiratory support, most commonly invasive ventilation. 95 percent of cases of infants with HPP who required invasive ventialation results in death 

*Data from a multinational noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with perinatal- and infantile-onset HPP.

References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Baumgartner-Sigl S, et al. Bone. 2007;40(6):1655-1661. doi: 10.1016/j.bone.2007.01.020 3. Eade AWT, et al. Ann Rheum Dis. 1981;40(2):164-170. doi: 10.1136/ard.40.2.164 4. Hӧgler W, et al. BMC Musculoskelet Disord. 2019;20(1):80. doi: 10.1186/s12891-019-2420-8 5. Whyte M, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC, Canada. 6. Seefried L, et al. J Bone Miner Res. 2020;35(11):2171-2178. doi: 10.1002/jbmr.4130 7. Bianchi ML, et al. Osteoporos Int. 2020;31(8):1445-1460. doi: 10.1007/s00198-020-05345-9 8. Weber TJ, et al. Metabolism. 2016;65(10):1522-1530. doi: 10.1016/j.metabol.2016.07.006

Early and accurate diagnosis is critical

Connect persistently low age- and sex-adjusted ALP with HPP symptoms.

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