Hypophosphatemic Rickets in Norway

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Haukeland University Hospital
ClinicalTrials.gov Identifier:
First received: January 26, 2010
Last updated: September 23, 2015
Last verified: September 2015
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 Intervention
Hypophosphatemia, Familial
Dietary Supplement: Alfacalcidol; phosphate.
Drug: Sevelamer

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Hypophosphatemic Rickets in Norway

Resource links provided by NLM:

Further study details as provided by Haukeland University Hospital:

Primary Outcome Measures:
  • Growth [ Time Frame: Up to 18 years ] [ Designated as safety issue: No ]
    Change i height z-score from time of diagnosis to last registered consultation.

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

Estimated Enrollment: 80
Study Start Date: December 2009
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.


Genders Eligible for Study:   Both
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:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01057186

Haukeland University Hospital, Childrens departement
Bergen, Norway, 5021
Sponsors and Collaborators
Haukeland University Hospital
Study Director: Robert Bjerknes, Professor, MD, PhD Haukeland University Hospital, Pediatric department
  More Information

Responsible Party: Haukeland University Hospital
ClinicalTrials.gov Identifier: NCT01057186     History of Changes
Other Study ID Numbers: 21922 
Study First Received: January 26, 2010
Last Updated: September 23, 2015
Health Authority: Norway: Norwegian Social Science Data Services
Norway:National Committee for Medical and Health Research Ethics

Additional relevant MeSH terms:
Familial Hypophosphatemic Rickets
Hypophosphatemia, Familial
Rickets, Hypophosphatemic
Bone Diseases
Bone Diseases, Metabolic
Calcium Metabolism Disorders
Deficiency Diseases
Genetic Diseases, Inborn
Kidney Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Musculoskeletal Diseases
Nutrition Disorders
Phosphorus Metabolism Disorders
Renal Tubular Transport, Inborn Errors
Urologic Diseases
Vitamin D Deficiency
Bone Density Conservation Agents
Physiological Effects of Drugs

ClinicalTrials.gov processed this record on May 26, 2016