Hypophosphatasia Clinical Trial
Official title:
Non-interventional, Prospective, Single-center Investigation With Exploratory Data Analysis to Delineate the Variability and Frequency of Symptoms and Disease Manifestations in Adult HPP Patients
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by inactivating
mutations in the Alkaline Phosphatase (ALPL) gene, coding for the Tissue-nonspecific
alkaline phosphatase (TNAP). Penetrance and disease severity is very heterogenous, ranging
from stillbirth to adult-onset manifestations. Especially the latter are again characterized
by an extremely broad spectrum of symptoms. This scope of variability makes it difficult to
attribute individual patients' symptoms to the disease and distinguish them from HPP
independent health issues. Especially in adult HPP patients, musculoskeletal problems,
including (fragility-) fractures / bone bruise, joint pain, reduced mobility, muscular
weakness and pain and reduced muscular endurance appear to reflect the prevailing burden of
disease, especially with respect these patients dis-abilities of daily life.
To expand current knowledge of the natural history of the disease as well as on disease
specific musculoskeletal deficits in HPP, all adult patients with established Diagnosis of
HPP known at the Orthopedic Institute, University of Würzburg, will be offered to
participate in a single, multimodal assessment of their disease history, current symptoms
and disabilities, lab evaluations and clinical and technical analysis of their
musculoskeletal status and capabilities.
Patients will be invited to a day long visit to the clinic in order to perform the following
assessments:
A) Epidemiologic / anamnestic information B) Physical examination C) Structured
questionnaires D) Laboratory examinations E) Clinical functional testing F) Technical
Examinations
n/a
Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
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|
||
| Recruiting |
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|
||
| Enrolling by invitation |
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|
||
| Active, not recruiting |
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|
||
| Not yet recruiting |
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|
||
| Completed |
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|
||
| Completed |
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Health Burden of Hypophosphatasia
|
||
| Completed |
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|
Phase 1/Phase 2 | |
| Recruiting |
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|
Phase 3 | |
| Recruiting |
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|
||
| Completed |
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|
Phase 2 | |
| Completed |
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|
Phase 2 | |
| Completed |
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|
||
| Completed |
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|
Phase 4 | |
| Completed |
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Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP)
|
Phase 2 | |
| Recruiting |
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|
||
| Completed |
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|
Phase 2/Phase 3 | |
| Withdrawn |
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|
Phase 2 | |
| Active, not recruiting |
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|
||
| Recruiting |
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|
Phase 3 |