Elite in Collagen VI-Related Myopathy

Francesco Muntoni

Great Ormond Street Hospital Biomedical Research Centre, 
London, ENG, GB 
Clinical Trials:Currently Recruiting for 1 Trial
Elite in Collagen VI-Related Myopathy
Great Ormond Street Hospital Biomedical Research Centre, 
London, ENG, GB 
OverviewLocationsClinical Research

Overview

Francesco Muntoni practices in London, United Kingdom. Mr. Muntoni is rated as an Elite expert by MediFind in the treatment of Collagen VI-Related Myopathy. His top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

His clinical research consists of co-authoring 532 peer reviewed articles and participating in 12 clinical trials. MediFind looks at clinical research from the past 15 years. In particular, he has co-authored 19 articles in the study of Collagen VI-Related Myopathy.

Gender
Male

Locations

Great Ormond Street Hospital Biomedical Research Centre, London, ENG, United Kingdom
Other Locations
UCL Great Ormond Street, London, ENG, United Kingdom

Clinical Research

Clinical research consists of overseeing clinical studies of patients undergoing new treatments and therapies, and publishing articles in peer reviewed medical journals. Experts who actively participate in clinical research are generally at the forefront of the fields and aware of the most up-to-date advances in treatments for their patients.

12 Clinical Trials

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Enrollment Status: Recruiting
Publish Date: October 07, 2025
Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
Enrollment Status: Completed
Publish Date: October 07, 2025
A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy
A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy
Enrollment Status: Active_not_recruiting
Publish Date: September 23, 2025
Intervention Type: Drug
Study Drugs: SRP-4045 Exon 45-Skipping Treatment, SRP-4053 Exon 53-Skipping Treatment
Study Phase: Phase 3
An Open-Label Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Subjects With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
An Open-Label Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Subjects With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
Enrollment Status: Completed
Publish Date: January 13, 2025
Intervention Type: Drug
Study Drug: Nusinersen
Study Phase: Phase 2
Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
Enrollment Status: Completed
Publish Date: February 02, 2023
Intervention Type: Drug
Study Drug: Givinostat
Study Phase: Phase 3
A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2
A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2
Enrollment Status: Completed
Publish Date: September 07, 2022
Intervention Type: Biological
Study Drug: Onasemnogene Abeparvovec-Xioi
Study Phase: Phase 3
Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen
Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen
Enrollment Status: Completed
Publish Date: August 12, 2022
Intervention Type: Drug
Study Phase: Phase 3
INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
Enrollment Status: Completed
Publish Date: July 29, 2022
The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
Enrollment Status: Completed
Publish Date: July 29, 2022
Intervention Type: Other
An Open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
An Open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
Enrollment Status: Completed
Publish Date: December 09, 2021
Intervention Type: Drug
Study Phase: Phase 2
A Phase Ib, Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Ascending Oral Doses of Rimeporide in Patients With Duchenne Muscular Dystrophy
A Phase Ib, Open Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Multiple Ascending Oral Doses of Rimeporide in Patients With Duchenne Muscular Dystrophy
Enrollment Status: Completed
Publish Date: July 18, 2019
Intervention Type: Drug
Study Phase: Phase 1
A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administered Intravenously to Patients With Duchenne Muscular Dystrophy
A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administered Intravenously to Patients With Duchenne Muscular Dystrophy
Enrollment Status: Completed
Publish Date: April 08, 2019
Intervention Type: Drug
Study Phase: Phase 1
View 11 Less Clinical Trials

527 Total Publications

Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation.
Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation.
Journal: Journal of neuromuscular diseases
Published: September 23, 2025

Areas of Expertise

MediFind evaluates expertise by pulling from factors such as number of articles a doctor has published in medical journals, participation in clinical trials, speaking at industry conferences, prescribing and referral patterns, and strength of connections with other experts in their field.

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