NCT02551120

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jun 2014

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2014

Completed
1 year until next milestone

First Submitted

Initial submission to the registry

June 17, 2015

Completed
3 months until next milestone

First Posted

Study publicly available on registry

September 16, 2015

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2017

Completed
3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2020

Completed
Last Updated

August 7, 2018

Status Verified

August 1, 2018

Enrollment Period

3.2 years

First QC Date

June 17, 2015

Last Update Submit

August 5, 2018

Conditions

Idiopathic HypoparathyroidismAutosomal Dominant HypocalcaemiaPseudohypoparathyroidism

Keywords

Idiopathic hypoparathyroidismAutosomal dominant hypocalcaemiaPseudohypoparathyroidismQuality of LifeBone Mineral DensityMuscle strengthCardiovascular indices

Outcome Measures

Primary Outcomes (1)

  • Study of patients (clinical characterization) with idiopathic hypoPT, ADH and pseudohypoPT

    A detailed clinical characterization of Danish patients with idiopathic HypoPT, ADH and Ps-HypoPT including genetics of patients with idiopathic HypoPT and Ps-HypoPT.

    3 years

Secondary Outcomes (3)

  • Quality of Life (QoL)

    3 years

  • Quality of Life (QoL)

    3 years

  • Bone Mineral Density (BMD)

    3 years

Other Outcomes (5)

  • Postural stability

    3 years

  • Blood pressure

    3 years

  • Arterial stiffness as measured by tonometry

    Three years

  • +2 more other outcomes

Study Arms (1)

Patients

Patients with idiopathic hypoparathyroidism, autosomal dominant hypocalcaemia and pseudohypoparathyroidism.

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

All patients with non-surgical hypoPT and pseudohypoparathyroidism in Denmark

You may qualify if:

  • Diagnosed with either:
  • Idiopathic hypoparathyroidism, pseudohypoparathyroidism or autosomal dominant hypocalcaemia
  • Participants must be able to read and understand Danish

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Aarhus University Hospital

Aarhus, Jutland, 8000, Denmark

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

HypoparathyroidismHypercalciuric Hypocalcemia, FamilialPseudohypoparathyroidism

Condition Hierarchy (Ancestors)

Parathyroid DiseasesEndocrine System DiseasesBone Diseases, MetabolicBone DiseasesMusculoskeletal DiseasesMetal Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesCalcium Metabolism Disorders

Study Officials

  • Lars Rejnmark, DmSci, PhD

    Aarhus University Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor, DMSci, PhD

Study Record Dates

First Submitted

June 17, 2015

First Posted

September 16, 2015

Study Start

June 1, 2014

Primary Completion

August 1, 2017

Study Completion

August 1, 2020

Last Updated

August 7, 2018

Record last verified: 2018-08

Locations

DK(1)