X-linked Hypophosphatemia and FGF21 (XLH 21)
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|ClinicalTrials.gov Identifier: NCT03596554|
Recruitment Status : Completed
First Posted : July 24, 2018
Last Update Posted : October 27, 2020
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).
|Condition or disease||Intervention/treatment|
|X-linked Hypophosphatemia||Other: Descriptive study|
|Study Type :||Observational|
|Actual Enrollment :||39 participants|
|Official Title:||X-linked Hypophosphatemia and Carbohydrate and Lipid Metabolism: a Role for FGF21?|
|Actual Study Start Date :||January 11, 2019|
|Actual Primary Completion Date :||February 27, 2020|
|Actual Study Completion Date :||February 27, 2020|
- Other: Descriptive study
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 [ Time Frame: 1 day ]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.
Biospecimen Retention: Samples Without DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03596554
|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, France, 69677|
|Centre de Référence des Maladies Rares du Calcium et du Phosphore, Service d'Endocrinologie Pédiatrique - Hôpital du Kremlin Bicêtre|
|Paris, France, 94270|
|Endocrinologie, Maladies Osseuses, Gynécologie, Génétique, Hôpital des Enfants, CHU de Toulouse|
|Toulouse, France, 31059|