Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism
|ClinicalTrials.gov Identifier: NCT02551120|
Recruitment Status : Active, not recruiting
First Posted : September 16, 2015
Last Update Posted : August 7, 2018
Hypoparathyroidism (hypoPT) and pseudohypoparathyroidism (Ps-hypoPT) are rare diseases, characterized by low levels of parathyroid hormone [PTH] and plasma calcium or high plasma PTH and low plasma calcium, respectively. A recently study by the investigators' group, identified 123 living persons with idiopathic hypoPT and 62 living persons with Ps-hypoPT, only few of these have been genetic tested.
The aim of the study is to perform a detailed clinical and genetic characterization of Danish patients with idiopathic hypoPT and Ps-hypoPT. Patients will be examined by questionnaires, biochemistry, scans, bone biopsies and genetic tests. Furthermore the investigators aim to perform family tracing for the hereditary forms. The prevalence of magnesium depletion will be assessed as well.
In addition to providing new information on symptoms, co-morbidity, and prognosis for this group of patients, the investigators presume that the study may improve their understanding on calcium homeostasis and bone metabolism in general.
|Condition or disease|
|Idiopathic Hypoparathyroidism Autosomal Dominant Hypocalcaemia Pseudohypoparathyroidism|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism|
|Study Start Date :||June 2014|
|Actual Primary Completion Date :||August 2017|
|Estimated Study Completion Date :||August 2020|
Patients with idiopathic hypoparathyroidism, autosomal dominant hypocalcaemia and pseudohypoparathyroidism.
- Study of patients (clinical characterization) with idiopathic hypoPT, ADH and pseudohypoPT [ Time Frame: 3 years ]A detailed clinical characterization of Danish patients with idiopathic HypoPT, ADH and Ps-HypoPT including genetics of patients with idiopathic HypoPT and Ps-HypoPT.
- Quality of Life (QoL) [ Time Frame: 3 years ]SF-36 version 2
- Quality of Life (QoL) [ Time Frame: 3 years ]WHO-5 Well Being Index
- Bone Mineral Density (BMD) [ Time Frame: 3 years ]
- Postural stability [ Time Frame: 3 years ]
- Blood pressure [ Time Frame: 3 years ]Blood pressure, measured three times after 10 min rest.
- Arterial stiffness as measured by tonometry [ Time Frame: Three years ]Indices of arterial stiffness
- Genetic characterization [ Time Frame: Three years ]Patients with no known mutation, are offered a genetic screening for the most common mutations known.
- Muscle strength and balance as measured by isometric tests and dynamic stability tests [ Time Frame: Three years ]Effects on muscle strength (isometric tests of flexion and extension of thigh and hand), two function-tests (timed up-and go and timed stand-and-sit), and postural stability
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02551120
|Aarhus University Hospital|
|Aarhus, Jutland, Denmark, 8000|
|Principal Investigator:||Lars Rejnmark, DmSci, PhD||Aarhus University Hospital|