Muscle Abnormalities in Children With XLH

NCT ID: NCT05312086

Last Updated: 2022-04-05

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 30 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-04-15
• Study Completion Date: 2023-06-15

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.

Conditions

Muscle Weakness; XLH

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

patients with X-linked hypophosphatemic

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

Group Type: OTHER

MRI

Intervention Type: OTHER

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.

healthy volunteers

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

Group Type: OTHER

MRI

Intervention Type: OTHER

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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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.

• 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

• 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.

• 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

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Central Contacts

Agnés LINGLART, Pr

Role: CONTACT

agnes.linglart@aphp.fr

0145217116

Philippe WICART, Pr

Role: CONTACT

p.wicart@aphp.fr

0144494310

Other Identifiers

2020-A01386-33

Identifier Type: -

Identifier Source: org_study_id