Distinguished in Riboflavin Transporter Deficiency Neuronopathy

Enrico S. Bertini

Rome, IT 
Distinguished in Riboflavin Transporter Deficiency Neuronopathy
Rome, IT 
OverviewLocationsClinical Research

Overview

Enrico Bertini practices in Rome, Italy. Mr. Bertini is rated as a Distinguished expert by MediFind in the treatment of Riboflavin Transporter Deficiency Neuronopathy. His top areas of expertise are Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Drug Induced Dyskinesia, Heart Transplant, and Gastrostomy.

His clinical research consists of co-authoring 616 peer reviewed articles and participating in 8 clinical trials. MediFind looks at clinical research from the past 15 years. In particular, he has co-authored 4 articles in the study of Riboflavin Transporter Deficiency Neuronopathy.

Gender
Male

Locations

Rome, Italy
Other Locations
Milan, 20154, Italy
Pisa, 56128, Italy
Genoa, Italy
Gesu, Italy

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.

8 Clinical Trials

Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies
Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies
Enrollment Status: Active_not_recruiting
Publish Date: April 30, 2025
Intervention Type: Drug
Study Phase: Phase 2/Phase 3
Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias
Clinical and Genetic Analysis of Autosomal Recessive Forms of Cerebellar Ataxias and Spastic Paraplegias
Enrollment Status: Completed
Publish Date: February 04, 2025
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
Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy
Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy
Enrollment Status: Terminated
Publish Date: August 27, 2024
Intervention Type: Other, Drug
Study Drug: Vatiquinone
Study Phase: Phase 2/Phase 3
A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy
A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy
Enrollment Status: Completed
Publish Date: May 08, 2024
Intervention Type: Drug
Study Drug: REN001
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
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Enrollment Status: Completed
Publish Date: June 07, 2018
View 7 Less Clinical Trials

613 Total Publications

Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation-contraction coupling disorders.
Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation-contraction coupling disorders.
Journal: European journal of human genetics : EJHG
Published: September 26, 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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