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Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism

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ClinicalTrials.gov Identifier: NCT02551120
Recruitment Status : Active, not recruiting
First Posted : September 16, 2015
Last Update Posted : August 7, 2018
Sponsor:
Information provided by (Responsible Party):
Lars Rejnmark, University of Aarhus

Brief Summary:

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

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
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


Group/Cohort
Patients
Patients with idiopathic hypoparathyroidism, autosomal dominant hypocalcaemia and pseudohypoparathyroidism.



Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. Quality of Life (QoL) [ Time Frame: 3 years ]
    SF-36 version 2

  2. Quality of Life (QoL) [ Time Frame: 3 years ]
    WHO-5 Well Being Index

  3. Bone Mineral Density (BMD) [ Time Frame: 3 years ]

Other Outcome Measures:
  1. Postural stability [ Time Frame: 3 years ]
  2. Blood pressure [ Time Frame: 3 years ]
    Blood pressure, measured three times after 10 min rest.

  3. Arterial stiffness as measured by tonometry [ Time Frame: Three years ]
    Indices of arterial stiffness

  4. Genetic characterization [ Time Frame: Three years ]
    Patients with no known mutation, are offered a genetic screening for the most common mutations known.

  5. 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
Blood samples (whole blood, serum and plasma), urine collection (24h) and bone biopsies


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
All patients with non-surgical hypoPT and pseudohypoparathyroidism in Denmark
Criteria

Inclusion Criteria:

  • Diagnosed with either:

Idiopathic hypoparathyroidism, pseudohypoparathyroidism or autosomal dominant hypocalcaemia

  • Participants must be able to read and understand Danish

Exclusion Criteria:

  • None

Information from the National Library of Medicine

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


Locations
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Denmark
Aarhus University Hospital
Aarhus, Jutland, Denmark, 8000
Sponsors and Collaborators
University of Aarhus
Investigators
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Principal Investigator: Lars Rejnmark, DmSci, PhD Aarhus University Hospital

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Responsible Party: Lars Rejnmark, Professor, DMSci, PhD, University of Aarhus
ClinicalTrials.gov Identifier: NCT02551120     History of Changes
Other Study ID Numbers: M-20110074-2
First Posted: September 16, 2015    Key Record Dates
Last Update Posted: August 7, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Keywords provided by Lars Rejnmark, University of Aarhus:
Idiopathic hypoparathyroidism
Autosomal dominant hypocalcaemia
Pseudohypoparathyroidism
Quality of Life
Bone Mineral Density
Muscle strength
Cardiovascular indices
Additional relevant MeSH terms:
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Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Hypocalcemia
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases
Calcium Metabolism Disorders
Metabolic Diseases
Water-Electrolyte Imbalance
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn