X-linked Hypophosphatemia and FGF21

NCT ID: NCT03596554

Last Updated: 2020-10-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

39 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-11

Study Completion Date

2020-02-27

Brief Summary

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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).

Detailed Description

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Conditions

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X-linked Hypophosphatemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

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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).

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

\- Pregnancy in progress
Minimum Eligible Age

10 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hospices Civils de Lyon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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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

Site Status

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

Paris, , France

Site Status

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

Toulouse, , France

Site Status

Countries

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France

Other Identifiers

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2018-A01304-51

Identifier Type: OTHER

Identifier Source: secondary_id

69HCL18_0349

Identifier Type: -

Identifier Source: org_study_id