Hypophosphatemic Rickets in Norway

NCT01057186 | Unknown

• 1 other identifier: 21922
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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.

Conditions

Hypophosphatemia, Familial; Rickets; Hyperphosphatemia

Outcome Measures

Primary Outcomes (1)

• Growth

  Change i height z-score from time of diagnosis to last registered consultation.

  Up to 18 years

Study Arms (2)

hereditary hypophosphatemia

Norwegian patients with hereditary hypophosphatemia.

Dietary Supplement: Alfacalcidol; phosphate.

Hereditary hyperphosphatemia

Norwegian patients with hereditary hyperphosphatemia (hyperphosphatemic familial tumoral calcinosis and hyperphosphatemia hyperostosis syndrome).

Drug: Sevelamer

Interventions

Alfacalcidol; phosphate. DIETARY_SUPPLEMENT

Individual dosage form and dosage depending on phenotype and underlying cause.

hereditary hypophosphatemia

Sevelamer DRUG

Pills. Individual dosage depending on clinical symptoms/phenotype.

Hereditary hyperphosphatemia

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

Sponsors & Collaborators

• Haukeland University Hospital: lead

Study Sites (1)

Haukeland University Hospital, Childrens departement

Bergen, 5021, Norway

Location

Biospecimen

Retention: SAMPLES WITH DNA

EDTA plasma, serum, urine

MeSH Terms

Conditions

Hypophosphatemia, Familial; Rickets; Hyperphosphatemia

Interventions

alfacalcidol; Phosphates; Sevelamer

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Hypophosphatemia; Phosphorus Metabolism Disorders; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Calcium Metabolism Disorders; Vitamin D Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders

Intervention Hierarchy (Ancestors)

Phosphoric Acids; Phosphorus Acids; Acids, Noncarboxylic; Acids; Inorganic Chemicals; Anions; Ions; Electrolytes; Phosphorus Compounds; Polyamines; Amines; Organic Chemicals

Study Officials

• Robert Bjerknes, Professor, MD, PhD

  Haukeland University Hospital, Pediatric department

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2010
• First Posted: January 27, 2010
• Study Start: December 1, 2009
• Primary Completion: December 1, 2018
• Last Updated: August 31, 2016

Record last verified: 2016-08

Locations

NO (1)