GUP23005NCT07890883

Bone Health in Adults With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures and Treatment.

StatusRecruiting

PhaseNot specified

SponsorIstituto Giannina Gaslini

Primary completionFeb 28, 2026

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Record History

All 1 version: 1 with changes below.

Oct 16, 2026 Study First Submitted

Endpoints

Primary

Prevalence of Fragility Fractures in Adult Patients with DMD

Timeframe: Baseline

Secondary (16)

Prevalence of Vertebral Fractures in Adult Patients with DMD

Fracture Treatment Patterns

Serum Biomarkers of Bone Metabolism and Bone-Muscle Crosstalk

Genetic Modifiers Associated with Fracture Risk

Bone Mineral Density of the Lumbar Spine (L1-L4)

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Bone Mineral Density of Total Body Less Head (TBLH)

Peak Expiratory Flow (PEF)

Forced Vital Capacity (FVC)

Respiratory Support Status

Presence of Scoliosis

Presence of Contractures

Other Orthopedic Deformities

History of Arthrodesis

Motor Function Assessed by NSAA

Upper-Limb Function Assessed by PUL

Walking Capacity Assessed by 6MWT

Arms and interventions

DMD patients (study group)

Approximately 200 adult patients with Duchenne muscular dystrophy (DMD), aged over 18 years, recruited from 15 Italian centers.

Healthy controls (control group)

Healthy male subjects aged over 18 years, recruited exclusively at IRCCS Istituto Giannina Gaslini, who will undergo only a blood sample collection of approximately 3 mL.

Sites

15 sites in 1 country

About this trial

Background and Rationale Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene, resulting in progressive muscle weakness and multiple complications, including respiratory and cardiac impairment, osteoporosis (OP), and fragility fractures (FF). Bone fragility is a major concern, as lower-limb fractures may accelerate the loss of independent ambulation and complicate daily care. Despite increased life expectancy, bone health in adults with DMD remains insufficiently investigated. This study aims to address this knowledge gap and improve the understanding and management of skeletal complications in this population. Objectives The study aims to: (1) determine the prevalence of fragility fractures in adults with DMD; (2) identify childhood and adolescent risk or protective factors affecting adult bone health; (3) collect data on fracture treatment; (4) measure serum analytes involved in bone metabolism and bone-muscle crosstalk; and (5) identify genetic modifiers associated with increased fracture risk. Study Population Approximately 200 patients with DMD aged over 18 years will be recruited from 15 Italian tertiary referral centers specializing in neuromuscular diseases. A control group of healthy males aged over 18 years will be recruited exclusively at the coordinating center. Controls will undergo only a blood collection of approximately 3 mL for serum analysis. Study Design and Procedures Patients will undergo respiratory assessment, including peak expiratory flow (PEF), forced vital capacity (FVC), and respiratory support requirements; orthopedic assessment of scoliosis, contractures, deformities, and previous spinal fusion surgery; motor function assessment using the North Star Ambulatory Assessment (NSAA); upper-limb function assessment using the Performance of the Upper Limb (PUL) scale; and the Six-Minute Walk Test (6MWT). Imaging procedures will include a lateral thoracolumbar spine radiograph (T4-L4) and dual-energy X-ray absorptiometry (DXA) of the lumbar spine (L1-L4) and total body less head (TBLH). Clinical and medical history data will be recorded using a dedicated case report form (CRF). Biological Samples and Analyses One blood sample of approximately 3 mL will be collected for serum extraction and analysis of metabolites involved in bone metabolism and bone-muscle crosstalk. Samples will be centralized at the coordinating center and then sent to the University of Campania "Luigi Vanvitelli" for analysis. Healthy control samples will be used for comparison. Two additional blood tubes, totaling approximately 6 mL, will be collected for DNA extraction and genome-wide association studies (GWAS), aimed at identifying genetic modifiers associated with increased fracture risk. These samples will be centralized and subsequently sent to the University of Padua for genetic analysis. Data Management and Ethics Study data will be anonymized and managed in accordance with the General Data Protection Regulation (GDPR, EU 2016/679) and the Declaration of Helsinki. Patients and/or their legally authorized representatives will receive the study information and provide written informed consent before participation. Investigators will declare any potential conflicts of interest. Expected Outcomes The study will characterize bone health and fragility fracture prevalence in adults with DMD, describe fracture management, and investigate clinical, developmental, biochemical, and genetic factors associated with fracture risk. The findings may help improve fracture prevention, bone health monitoring, and clinical management in this population.

Trial details

Enrollment: 200 participants (estimated)
Started: Apr 11, 2024
Study completion: Dec 31, 2026 (estimated)
Eligibility: 18 to 44, male only, healthy volunteers accepted
Design: Observational
Conditions: Muscular Dystrophy, Duchenne, Duchenne Muscular Dystrophy (DMD)
Official title: Bone Health in Adult Patients With Duchenne Muscular Dystrophy: A Survey on Osteoporosis, Fractures, and Their Treatment.
First posted: Oct 22, 2026
Registry updated: Oct 22, 2026
Last verified: Oct 2026

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