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Hypophosphatemic Rickets in Norway

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01057186
Recruitment Status : Unknown
Verified August 2016 by Haukeland University Hospital.
Recruitment status was:  Active, not recruiting
First Posted : January 27, 2010
Last Update Posted : August 31, 2016
Information provided by (Responsible Party):
Haukeland University Hospital

Brief Summary:
The purpose of the study is to do a follow-up survey of all individuals with hereditary hypophosphatemia in Norway, focusing on manifestations in childhood and adolescence. The investigators also want to study phenotype-genotype associations, and look for new genes, in all forms of hereditary hypo and hyperphosphatemia.

Condition or disease Intervention/treatment
Hypophosphatemia, Familial Rickets Hyperphosphatemia Dietary Supplement: Alfacalcidol; phosphate. Drug: Sevelamer

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Study Type : Observational
Estimated Enrollment : 80 participants
Observational Model: Cohort
Official Title: Hypophosphatemic Rickets in Norway
Study Start Date : December 2009
Estimated Primary Completion Date : December 2018

Group/Cohort Intervention/treatment
hereditary hypophosphatemia
Norwegian patients with hereditary hypophosphatemia.
Dietary Supplement: Alfacalcidol; phosphate.
Individual dosage form and dosage depending on phenotype and underlying cause.

Hereditary hyperphosphatemia
Norwegian patients with hereditary hyperphosphatemia (hyperphosphatemic familial tumoral calcinosis and hyperphosphatemia hyperostosis syndrome).
Drug: Sevelamer
Pills. Individual dosage depending on clinical symptoms/phenotype.

Primary Outcome Measures :
  1. Growth [ Time Frame: Up to 18 years ]
    Change i height z-score from time of diagnosis to last registered consultation.

Biospecimen Retention:   Samples With DNA
EDTA plasma, serum, urine

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The cohorts will be selected from Norwegian patients with hypophosphatemia and hyperphosphatemia.

Inclusion Criteria:

  • All patients in the Norwegian population with hereditary hypophosphatemia, with or without rickets
  • Patients in the Norwegian population with hereditary hyperphosphatemia

Exclusion Criteria:


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 identifier (NCT number): NCT01057186

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Haukeland University Hospital, Childrens departement
Bergen, Norway, 5021
Sponsors and Collaborators
Haukeland University Hospital
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Study Director: Robert Bjerknes, Professor, MD, PhD Haukeland University Hospital, Pediatric department
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Responsible Party: Haukeland University Hospital Identifier: NCT01057186    
Other Study ID Numbers: 21922
First Posted: January 27, 2010    Key Record Dates
Last Update Posted: August 31, 2016
Last Verified: August 2016
Additional relevant MeSH terms:
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Rickets, Hypophosphatemic
Familial Hypophosphatemic Rickets
Hypophosphatemia, Familial
Phosphorus Metabolism Disorders
Metabolic Diseases
Bone Diseases, Metabolic
Bone Diseases
Musculoskeletal Diseases
Calcium Metabolism Disorders
Vitamin D Deficiency
Deficiency Diseases
Nutrition Disorders
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Chelating Agents
Sequestering Agents
Molecular Mechanisms of Pharmacological Action
Bone Density Conservation Agents