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Hypophosphatasia clinical trials

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NCT ID: NCT03418389 Not yet recruiting - Hypophosphatasia Clinical Trials

Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia

Start date: July 2018
Study type: Observational

Hypophosphatasia is a rare inherited metabolic disorder due to inactivating mutations of the ALPL-Gene. Particularly among adult patients, clinical manifestation exhibits a broad range of signs and symptoms, most commonly associated with musculoskeletal disabilities and compromised quality of life. Enzyme replacement therapy with Asfotase alfa (AA) is available and approved for patients with pediatric onset of the disease. This single-center observational cohort study aims at collecting clinical routine data regarding the course treatment, quality of life and physical performance in patients treated with Asfotase alfa in line with the label for pediatric-onset hypophosphatasia.

NCT ID: NCT02797821 Completed - Hypophosphatasia Clinical Trials

Pharmacokinetic, and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP)

Start date: June 2016
Phase: Phase 2
Study type: Interventional

The purpose of this study is to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of asfotase alfa in adult patients with pediatric-onset HPP.

NCT ID: NCT02796885 Recruiting - Hypophosphatasia Clinical Trials

Characterisation of Adult-Onset Hypophosphatasia

Start date: November 2016
Study type: Observational

Hypophosphatasia (HPP) is an inherited condition which causes a defect in bone calcification, leading to weak bones. Early childhood forms are severe and easily recognised, and there is now a drug treatment which is very effective in children. Adult forms are milder, often missed by doctors or confused with osteoporosis. This is important because the usual osteoporosis treatments may be harmful in HPP, and increase the risk of broken bones. One of the reasons it is missed is a lack of research describing the typical features of HPP, so doctors don't recognise the signs, and don't know when or how to test for it. The aim of this study is to establish clear criteria (from clinical history, examination and blood tests) to identify people with HPP. The results will also determine if there should be a trial of drug treatment for adults with HPP.

NCT ID: NCT02751801 Recruiting - Hypophosphatasia Clinical Trials

Health Burden of Hypophosphatasia

Start date: November 2016
Phase: N/A
Study type: Observational

Hypophosphatasia (HPP) is a genetic disorder caused by mutation in the tissue-non-specific alkaline phosphatase gene (TNSALP). It causes impaired bone mineralisation, fractures, tooth loss, muscle weakness and possibly other adverse health outcomes. The infantile-onset forms are severe, and were often fatal until the recent availability of a treatment (Asfotase Alfa). The childhood-onset forms are less severe, and the adult-onset form is mild, and often unrecognised or misdiagnosed as osteoporosis. The less severe forms of the disease are not well described, and because there has been no available treatment there has not been much research in adults. However, now that treatment is available there is a possibility of a clinical trial in adults. To know whether there is a need for a trial there is a need to determine if there is a significant personal and economic burden associated with the less severe forms of HPP. The study consists of a clinical interview and notes review of adults and children with confirmed (by biochemical and genetic testing) HPP attending metabolic bone clinics in Sheffield to establish their clinical problems and healthcare use. There are currently about 26 adults and 8 children attending clinics in Sheffield. The information will be used to plan a data search and health economic analysis of the burden of HPP from the UK Clinical Practice Research Database in collaboration with Pharmatelligence (a healthcare data group based within the University of Cardiff).

NCT ID: NCT02603042 Recruiting - Hypophosphatasia Clinical Trials

Biomarker for Hypophosphatasia Disease

Start date: November 2015
Study type: Observational

Development of a new MS-based biomarker for the early and sensitive diagnosis of Hypophosphatasia disease from plasma

NCT ID: NCT02531867 Completed - Hypophosphatasia Clinical Trials

Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan

Start date: July 2015
Phase: Phase 4
Study type: Interventional

This is a multicenter study in Japan. Eleven sites which have already participated in the investigator-initiated clinical study (Early Access Program) will participate in this study.The objective of this study is to gain further information on the safety and efficacy of treatment with asfotase alfa.

NCT ID: NCT02496689 Approved for marketing - Hypophosphatasia Clinical Trials

Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP)

Start date: n/a
Phase: N/A
Study type: Expanded Access

This clinical trial is being conducted in Hypophosphatasia, a bone disorder caused by gene mutation(s) resulting in bone defects. These gene mutations cause low levels of an enzyme needed to harden bone. The purpose of this study is to provide access to treatment in a disease where no approved treatment exists. This is an experimental treatment provided under specific treatment guidelines in which safety endpoints will be collected.

NCT ID: NCT02456038 Enrolling by invitation - Hypophosphatasia Clinical Trials

Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP)

Start date: August 2014
Phase: Phase 2
Study type: Interventional

The aim of this study is to assess safety and efficacy of Asfotase Alfa (ALXN1215) in patients with hypophosphatasia

NCT ID: NCT02306720 Enrolling by invitation - Clinical trials for Hypophosphatasia (HPP)

An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP)

Start date: December 2014
Phase: N/A
Study type: Observational [Patient Registry]

To collect and evaluate long-term safety and effectiveness data in HPP patients who have/ are receiving treatment with asfotase alfa.

NCT ID: NCT02291497 Completed - Hypophosphatasia Clinical Trials

Burden of Disease in Hypophosphatasia (HPP)

Start date: October 2014
Phase: N/A
Study type: Observational

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