Characterizing the unmet need and burden of disease in adult HPP patients in Germany treated with best supportive care

Characterizing the unmet need and burden of disease in adult HPP patients in Germany treated with best supportive care - CUBAS

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00038304

Enrollment

150

Registered

2025-12-22

Start date

2026-01-19

Completion date

Unknown

Last updated

2026-02-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

E83.3

Interventions

Group 1: Multicenter, observational study integrating cross-sectional data collection with historical data from patient medical records. The study will enroll adult patients with hypophosphatasia (HPP

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: 1. Patients aged = 18 year at time of signed informed consent (Male or Female) 2. Diagnosis of HPP: - Diagnosis of HPP is documented in medical records and - Two documented serum ALP activity results, at least 15 days apart, below the age- and sex-adjusted local laboratory normal range, obtained from medical records and - Signs or symptoms of HPP and - One of the following criteria: Documented TNSALP gene variant or Plasma PLP above the upper limit of normal (ULN) at any time since symptom onset 3. Treated with best supportive care (BSC) 4. Able and willing to participate in the study 5. Able to give written informed consent

Exclusion criteria

Exclusion criteria: 1. Previous and/ or current treatment with asfotase alfa (as study medication or product) 2. Current participation and/or previous participation in an interventional clinical trial with a medicinal product for HPP

Design outcomes

Primary

Measure	Time frame
Descriptive statistical analysis of patient reported outcomes (patient reported symptoms and socio-medical aspects questionnaire), physical function (including 6MWT, Timed up and Go, Chair Rise test, LEFS), BoD (BPI-SF), and quality of life (including SF-36 and FACIT-Fatigue) Descriptive statistical analysis of demographics and disease characteristics (including laboratory findings, (ultrasound) imaging results and physical examination findings). Descriptive statistical analysis of treatment history, as well as resource utilization (as assessed in the patient reported symptoms and socio-medical aspects questionnaire).	—

Measure

Time frame

Descriptive statistical analysis of patient reported outcomes (patient reported symptoms and socio-medical aspects questionnaire), physical function (including 6MWT, Timed up and Go, Chair Rise test, LEFS), BoD (BPI-SF), and quality of life (including SF-36 and FACIT-Fatigue) Descriptive statistical analysis of demographics and disease characteristics (including laboratory findings, (ultrasound) imaging results and physical examination findings). Descriptive statistical analysis of treatment history, as well as resource utilization (as assessed in the patient reported symptoms and socio-medical aspects questionnaire).

—

Secondary

Measure	Time frame
Not applicable. See primary endpoints.	—

Countries

Germany

Contacts

Public ContactLothar Seefried

Klinische Studieneinheit/Osteologie

lothar.seefried@uni-wuerzburg.de0049 931 803 3590

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 7, 2026