X-linked Hypophosphatemia and FGF21

NCT03596554 | Completed

• 2 other identifiers: 69HCL18_03492018-A01304-51
• Study Type: observational
• Target: 39
• Locations: 1 country
• Sites: 3

Brief Summary

Fibroblast Growth Factor 23 and Fibroblast Growth Factor 21 are two endocrine Fibroblast Growth Factors, requiring Klotho as a co-factor to promote their systemic actions. Fibroblast Growth Factor 21 is involved in the regulation of glucid and lipid metabolism. Fibroblast Growth Factor 21 Knock Out mice display obesity and hyperglycemia. In investigators experience, patients with X-linked hypophosphatemia often present with early-onset over-weight that could be partly explained by decreased physical activity because of bone pains and deformations after puberty; however, patients usually display progressive over-weight earlier in life, when there is no limitation of physical activity yet. To the knowledge of investigators the association between Fibroblast Growth Factor 23, Fibroblast Growth Factor 21 and Klotho in patients with X-linked hypophosphatemia has never been evaluated. Thus, the main objective of this study is to evaluate the glucid and lipid metabolism in patients with X-linked hypophosphatemia, the main working hypothesis being that the genetic deregulation in the Fibroblast Growth Factor 23 axis in patients with X-linked hypophosphatemia induces modifications of Klotho levels (namely decreased levels) that in turn will deregulate the Fibroblast Growth Factor 21 axis (resistance to Fibroblast Growth Factor 21 because of decreased Klotho levels).

Conditions

X-linked Hypophosphatemia

Outcome Measures

Primary Outcomes (1)

• Circulating FGF21

  Samples specific to the study will be collected during a sampling performed as part of the usual care and follow-up of the patient. An additional tube (5 ml maximum) will be collected, which will be sent to the Lyon Sud Hospital Center for analysis of circulating FGF21.

  1 day

Interventions

Descriptive study OTHER

Description of the circulating values of Fibroblast Growth Factor 21 in X-linked hypophosphatemia children compared to controls in the VITADOS cohort (healthy children and adolescents aged 10-18 years), after age-matched, pubertal stage and sex).

Eligibility Criteria

• Age: 10 Years - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Patients aged 10 to 18 years followed in the different sites of the French Reference Center for Rare Diseases of Calcium and Phosphate, and monitored for hypophosphatemic rickets; estimated number to be included, N=40

You may qualify if:

• Child with X-linked hypophosphatemia with PHEX gene mutation
• Child between 10 and 18 years old
• Child over 10 kg having a blood sample as part of the treatment (due to regulatory constraints for blood volume taken in 30-day period of 40 mL in children over 10 kg)
• Child and parent / holder of parental authority who has been informed of the study and does not object to participate.

You may not qualify if:

• \- Pregnancy in progress

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (3)

Centre de Référence des Maladies Rénales Rares - Centre de Référence des Maladies Rares du Calcium et du Phosphate - Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques - Hôpital Femme Mère Enfant

Bron, 69677, France

Location

Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie Pédiatrique - Hôpital du Kremlin Bicêtre

Paris, 94270, France

Location

Endocrinologie, Maladies Osseuses, Gynécologie, Génétique, Hôpital des Enfants, CHU de Toulouse

Toulouse, 31059, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum and plasma

MeSH Terms

Conditions

Familial Hypophosphatemic Rickets

Condition Hierarchy (Ancestors)

Rickets, Hypophosphatemic; Rickets; Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Hypophosphatemia, Familial; 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; Calcium Metabolism Disorders; Hypophosphatemia; Phosphorus Metabolism Disorders; Vitamin D Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 12, 2018
• First Posted: July 24, 2018
• Study Start: January 11, 2019
• Primary Completion: February 27, 2020
• Study Completion: February 27, 2020
• Last Updated: October 27, 2020

Record last verified: 2020-10

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)