Muscle Abnormalities in Children With XLH

Muscle Weakness Clinical Trial

— MDmuscleXLH  

Official title:

Prospective Analysis of Quantitative and Qualitative Muscle Abnormalities in Children With X-linked Hypophosphatemia (XLH)

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05312086
• Other study ID #: 2020-A01386-33
• Status: Not yet recruiting
• Phase: N/A
• Start date: April 15, 2022
• Est. completion date: June 15, 2023

Study information

• Verified date: January 2022
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Agnés LINGLART, Pr
• Phone: 0145217116
• Email: agnes.linglart[@]aphp.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 30
• Est. completion date: June 15, 2023
• Est. primary completion date: June 15, 2023
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 5 Years to 17 Years

Eligibility

Inclusion Criteria common criteria to the 2 groups:

• Age: between 5 and 17 years.

• Sex: male or female.

• Informed consent, signed by both parents or holder of parental autority after being informated of the study.

• Affiliation to a social security schema or having the right to.

Inclusion criteria for XLH Patients :

• Patient suffer of X-linked hypophosphatemia rickets.

• Severity of clinical and radiological damage (pain, muscle weakness and severe bone deformities).

• Growth in progress (bone age less than 15 years).

• Child under conventional treatment: patient responding to conventional treatment or

• under treatment with Burosumab (patient in treatment failure under treatment conventional).

incluion criteria for helthy volunteers :

• Healthy voluntary subjects, not suffering from XLH.

• Matching by age (+/- 6 months) and sex.

Exclusion Criteria common to the 2 groups :

• Not being able to stay still during the MRI examination (approximately 45 min).

• Growth completed.

• History of lower limb surgery.

• Contraindications to MRI

• Holders of parental authority under AME.

• Holders of parental authority under tutorship / curatorship.

Exclusion criteria for Healthy volunteers :

• Patients with endocrine, contracted or muscular pathology.

• Patient receives a long-term treatment.

• Patients with a high athletic level.

• BMI-IOTF <20 or> 27.8

Related Conditions & MeSH terms

• Muscle Weakness
• Paresis
• XLH

Intervention

Other:
• MRI
Performing the muscle MRI requires the cooperation of the child in order to remain lying down and motionless throughout the duration of the MRI, about 45 minutes. Performing MRI does not require the injection of contrast products or radiopharmaceuticals.

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Quantify and compare muscle composition in XLH children versus healthy control children to demonstrate a link between muscle function and muscle quality.	calculation of inter-muscular adipose tissue will be done in cm2	1 day
Secondary	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.	The Outcome Measure is BMI (Kg/m²)	1 day
Secondary	Quantitative analysis of the muscles of the lower limbs (volume and length)	The Outcome Measure is BMI (Kg/m²)	1 day