Muscle Abnormalities in Children With XLH

NCT05312086 | Unknown

• 1 other identifier: 2020-A01386-33
• Study Type: interventional
• Target: 30
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Muscle Weakness; XLH

Keywords

XLH rickets; IMAT; intraMAT; muscle weakness; MRI

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 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

• Quantitative analysis of the muscles of the lower limbs (volume and length)

  1 day

Study Arms (2)

patients with X-linked hypophosphatemic

OTHER

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

Other: MRI

healthy volunteers

OTHER

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

Other: MRI

Interventions

MRI 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; patients with X-linked hypophosphatemic

Eligibility Criteria

• Age: 5 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

MeSH Terms

Conditions

Muscle Weakness

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Manifestations; Neurologic Manifestations; Nervous System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms

Central Study Contacts

Agnés LINGLART, Pr

CONTACT

0145217116; agnes.linglart@aphp.fr

Philippe WICART, Pr

CONTACT

0144494310; p.wicart@aphp.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 24, 2022
• First Posted: April 5, 2022
• Study Start: April 15, 2022
• Primary Completion: June 15, 2023
• Study Completion: June 15, 2023
• Last Updated: April 5, 2022

Record last verified: 2022-01