An observational study in X-linked Hypophosphatemia, sponsored by Hospices Civils de Lyon. Completed at 3 sites in France. Open to participants aged 10 Years to 18 Years. Per ClinicalTrials.gov, last updated 2020-10-27.
Sponsored by Hospices Civils de Lyon · Observational
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).
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
Exclusion Criteria:
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).
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.
Time frame: 1 day
Plan to share: No
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This study is completed, as verified in Oct 2020. You cannot join it, but the record below documents what was studied.
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Familial Hypophosphatemic Rickets→
Hospices Civils de Lyon