Muscle Abnormalities in Children With XLH

Not Applicable

• Conditions: Muscle Weakness; XLH
• Interventions: Other: MRI

• Registration Number: NCT05312086
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

XLH rickets is a rare disease with muscle weakness. Fat parameters such as IMAT and intraMAT could be increased in this disease. IMAT and intraMAT will be calculated on MRI for 11 XLH children versus 20 typically developing children. The investigator will compare the percentage of IMAT in the XLH group versus control group and the difference concerning the intraMAT between the two groups.

Detailed Description

Single-center, prospective, non-randomized, controlled study with XLH and healthy volunteer children.

This study involves performing muscle MRI in healthy child volunteers to assess and compare the structure and composition of muscles to those of muscles in children with XLH pathology (muscle MRI of XLH patients is performed as part of standard medical care).

During this study we will have two groups: XLH group and a control group with typically developing children. In the XLH group, composed of 10 patients aged between 5 ans 17 years, female or male and ongoing growth (lesser bone age than 15 years old), have XLH and the most severe radiological deformities,clinical complications (pain and muscular weakness), have already done a muscle MRI of the lower limb during their follow-up.

The control group composed of 20 healthy volunteers aged between 5 ans 17 years old, female or male and without any endocrine pathology. A muscle MRI is necessary for healthy volunteers.

Every child will be alone After signing the informed consent by the 2 parents, the patient or the healthy volunteer and his parents, the MRI assessment will be performed on the same day.

Performing the muscle MRI requires the cooperation of the child in order to remain lying down and motionless throughout the duration of the MRI, i.e. approximately 45 minutes.

Performing MRI does not require the injection of contrast products or radiopharmaceuticals.

Study Timeline

• Status Verified: 2022-01
• Study First Submitted: 2022-01-24
• Study First Submitted QC: 2022-03-28
• Last Update Submitted: 2022-03-28
• Study First Posted: 2022-04-05
• Last Update Posted: 2022-04-05
• Study Start: 2022-04-15
• Primary Completion: 2023-06-15
• Study Completion: 2023-06-15

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
healthy volunteers	MRI	control group composed of 20 helthy volunteers aged between 5 to 17 years old, female or male, without any endocrine pathology, not suffering from XLH, matching by age (+/- 6 months) and sex
patients with X-linked hypophosphatemic	MRI	Patient group composed of 10 patients aged between 5 to 17 years old, female or male, with X-linked hypophosphatemic (XLH) rickets, severity of clinical and radiological damage (pain, muscle weakness and severe bone deformities) and ongoing growth (lesser bone age than 15 years old), child under conventional treatment

Primary Outcome Measures

Name	Time	Method
Quantify and compare muscle composition in XLH children versus healthy control children to demonstrate a link between muscle function and muscle quality.	1 day	calculation of inter-muscular adipose tissue will be done in cm2

Secondary Outcome Measures

Name	Time	Method
Quantitative analysis of the muscles of the lower limbs (volume and length)	1 day	The Outcome Measure is BMI (Kg/m²)
Measurement of muscle strength on force platforms, during gait analysis. Power test by mechanography of the jump (bipod and monopodal). Grasping test and correlation of fatty infiltration and functional data.	1 day	The Outcome Measure is BMI (Kg/m²)