Hypophosphatemic Rickets in Norway

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.

Study Overview

• Status: Unknown
• Conditions: Hyperphosphatemia; Rickets; Hypophosphatemia, Familial
• Intervention / Treatment: Dietary supplement: Alfacalcidol; phosphate.; Drug: Sevelamer

• Study Type: Observational
• Enrollment (Anticipated): 80

Contacts and Locations

Study Locations

• Norway
  • Bergen, Norway, 5021
    • Haukeland University Hospital, Childrens departement

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

The cohorts will be selected from Norwegian patients with hypophosphatemia and hyperphosphatemia.

Description

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:

-

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Growth	Change i height z-score from time of diagnosis to last registered consultation.	Up to 18 years

Collaborators and Investigators

• Sponsor: Haukeland University Hospital
• Investigators: Study Director: Robert Bjerknes, Professor, MD, PhD, HAUKELAND UNIVERSITY HOSPITAL, PEDIATRIC DEPARTMENT

Study record dates

Study Major Dates

• Study Start: December 1, 2009
• Primary Completion (Anticipated): December 1, 2018

Study Registration Dates

• First Submitted: January 26, 2010
• First Submitted That Met QC Criteria: January 26, 2010
• First Posted (Estimate): January 27, 2010

Study Record Updates

• Last Update Posted (Estimate): August 31, 2016
• Last Update Submitted That Met QC Criteria: August 30, 2016
• Last Verified: August 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Kidney Diseases; Urologic Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Musculoskeletal Diseases; Avitaminosis; Deficiency Diseases; Malnutrition; Bone Diseases; Metabolism, Inborn Errors; Bone Diseases, Metabolic; Renal Tubular Transport, Inborn Errors; Calcium Metabolism Disorders; Metal Metabolism, Inborn Errors; Phosphorus Metabolism Disorders; Vitamin D Deficiency; Hyperphosphatemia; Rickets; Familial Hypophosphatemic Rickets; Hypophosphatemia; Rickets, Hypophosphatemic; Hypophosphatemia, Familial; Physiological Effects of Drugs; Molecular Mechanisms of Pharmacological Action; Micronutrients; Vitamins; Bone Density Conservation Agents; Chelating Agents; Sequestering Agents; Sevelamer; Alfacalcidol; Hydroxycholecalciferols
• Other Study ID Numbers: 21922