Burden of Disease in Hypophosphatasia (HPP)

NCT02291497 | Completed

• 1 other identifier: HPP-Study
• Study Type: observational
• Target: 114
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Hypophosphatasia

Outcome Measures

Primary Outcomes (1)

• Frequencies of main disease symptoms and main disease manifestations

  2 years

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

see "Eligibility Criteria"

You may qualify if:

• Adult males and females (age ≥ 18 years)
• Established diagnosis of Hypophosphatasia
• Reduced Serum/Plasma ALP (Alkaline phosphatase)-Activity below age and sex specific reference range of the respective test kit applied (measured at least twice with a minimum 4 week interval)
• At least one of the items below:
• Genetically secured ALPL-Mutation
• Elevated PLP (Pyridoxal 5-Phosphate) (urine or serum), above ULN (Upper level of normal)
• Symptoms of the disease
• Signed informed consent

You may not qualify if:

• Current / previous treatment with Asfotase alfa
• Current participation in another clinical study

Sponsors & Collaborators

• Wuerzburg University Hospital: lead

Study Sites (1)

Clinical Trial Unit, Orthopaedische Klinik Koenig-Ludwig-Haus, Lehrstuhl der Universitaet Wuerzburg

Würzburg, Bavaria, 97074, Germany

Location

Related Publications (1)

• Weider M, Schlagenhauf U, Seefried L. Oral health status of adult hypophosphatasia patients: A cross-sectional study. J Clin Periodontol. 2022 Dec;49(12):1253-1261. doi: 10.1111/jcpe.13718. Epub 2022 Sep 7.

  PMID: 36054522 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood will be stored till 2031

MeSH Terms

Conditions

Hypophosphatasia

Condition Hierarchy (Ancestors)

Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. med.

Study Record Dates

• First Submitted: November 11, 2014
• First Posted: November 14, 2014
• Study Start: October 1, 2014
• Primary Completion: May 1, 2016
• Study Completion: June 1, 2016
• Last Updated: November 8, 2016

Record last verified: 2016-11

Locations

DE (1)