Duchenne Muscular Dstrophy

Duchenne muscular dystrophy (DMD) affects the ensemble of the muscles of the organism: skeletal muscle, cardiac muscle, and some smooth muscle. The first symptoms appear in childhood at about 3 years of age. Only boys are affected. DMD is characterized by progressive muscle weakness of the limbs and the trunk. Going upstairs, then walking become difficult and then impossible. Respiratory and cardiac effects may be lethal.

 

Clinical trials on DMD ongoing at the Institute:

Pharmacological trials

  • WAVE Dystance: A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administrated Intravenously to Patients with Duchenne Muscular Dystrophy
  • WAVE-OLE: A Multicenter, Open-Label Extension Study of WVE-210201 in Patients previously enrolled in WVE-DMDX51-001
  • Essence : A Double-blind, Placebo-Controlled, Multicenter Study With and Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy
  • SRP4658-302 : Long-term, Open-label Extension Study for Patients with Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen
  • SRP 4856-102: An open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients with DMD Amenable to Exon 51 Skipping
  • SRP 4856-102-OLE: An Open-Label Safety, Tolerability, and Efficacy Study of Eteplirsen in Patients with Duchenne Muscular Dystrophy Who Have Completed Study 4658-102
  • SRP4658-402: A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping
  • Italfarmaco: Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
  • Italfarmaco-E: 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
  • SPITFIRE (Anti-Myostatin): A Phase 2/3, Randomized,Parallel, Double-blind, Placebo-controlled, to assess the Efficacy, Safety and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy
  • SIDEROS : A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid steroids
  • SIDEROS E: A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients with Duchenne Muscular Dystrophy (DMD) who completed the SIDEROS study
  • PTC-PASS : Long-Term Observational Study of Translarna safety and effectiveness in routine care

 

Studies of progression of the disease

  • NatHis-DMD: Outcome measures in Duchenne Muscular Dystrophy: a Natural History Study
  • GNT-014-MDYF: Natural History of Duchenne Muscular Dystrophy – A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 6 Years
  • SRP4658-407: A Natural History Study in Patients with Duchenne Muscular Dystrophy Managed in Routine Clinical Practice

 

Database

  • UMD-DMD : Database Dystrophinopathies (UMD-DMD France) (www.umd.be/DMD)

 

Further details on the clinical trials

  • WAVE Dystance: A Randomized, Double-blind, Placebo-controlled, Efficacy and Safety Study of WVE-210201 in Ambulatory Patients with Duchenne Muscular Dystrophy
  • WAVE-OLE: A Multicenter, Open-Label Extension Study of WVE-210201 in Patients previously enrolled in WVE-DMDX51-001

Acronym

WAVE Dystance

WAVE-OLE

Study type BMR BMR
Trial type Multicentre trial Multicentre trial
Intervention WVE-210201 WVE-210201
Principal investigator Odile Boespflug-Tanguy Odile Boespflug-Tanguy
Sponsor WAVE WAVE
Study status Ongoing Ongoing
Recruitment status Ongoing Ongoing
Population Child Child

 

  • Essence : A Double-blind, Placebo-Controlled, Multicenter Study With and Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy
  • SRP4658-302 : Long-term, Open-label Extension Study for Patients with Duchenne Muscular Dystrophy
    Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen
  • SRP 4856-102: An open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients with DMD Amenable to Exon 51 Skipping
  • SRP 4856-102-OLE: An Open-Label Safety, Tolerability, and Efficacy Study of Eteplirsen in Patients with Duchenne Muscular Dystrophy Who Have Completed Study 4658-102
  • SRP4658-402: A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping

 

Acronym

Essence

SRP4658-302

SRP 4658-102

SRP 4856-102-OLE

SRP4658-402

Study type BMR BMR BMR BMR BMR
Trial type International multicentre trial International multicentre trial
Intervention Casimersen, Golodirsen and placebo Casimersen, Golodirsen Étéplirsen Étéplirsen Étéplirsen
Principal investigator
Andreea Seferian Andreea Seferian Andreea Seferian Andreea Seferian Andreea Seferian
Sponsor SAREPTA SAREPTA SAREPTA SAREPTA SAREPTA
Fundings SAREPTA SAREPTA SAREPTA SAREPTA SAREPTA
Study status Ongoing In preparation Ongoing Ongoing In preparation
Recruitment status Ongoing Ongoing Ongoing
Population Child Child Child Child Child
+ infos on clinicaltrials.org + infos on clinicaltrials.gov

 

  • Italfarmaco: Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
  • Italfarmaco-E: 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

 

Acronym

Italfarmaco

Italfarmaco-E

Study type
BMR BMR
Trial type
Multicentre trial Multicentre trial
Intervention Givinostat vs Placebo Givinostat vs Placebo
Principal investigator Odile Boespflug-Tanguy Odile Boespflug-Tanguy
Sponsor Italfarmaco Italfarmaco
Fundings Italfarmaco Italfarmaco
Study status Ongoing In preparation
Recruitment status Ongoing
Population Child Child
+ infos on clinicaltrials.gov

 

  • SPITFIRE (Anti-Myostatin): A Phase 2/3, Randomized,Parallel, Double-blind, Placebo-controlled, to assess the Efficacy, Safety and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy
  • SIDEROS : A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy Receiving Glucocorticoid steroids
  • SIDEROS E: A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients with Duchenne Muscular Dystrophy (DMD) who completed the SIDEROS study
  • PTC-PASS : Long-Term Observational Study of Translarna safety and effectiveness in routine care

 

Acronym

SPITFIRE
(Anti-Myostatin)

SIDEROS

 

SIDEROS E

PTC-PASS

Study type RBM RBM RBM Observationnal
Trial type Multicentre trial International multicentre trial International multicentre trial
Intervention RO7239361 Idebenone Idebenone Ataluren
Principal investigator Odile Boespflug-Tanguy Odile Boespflug-Tanguy Odile Boespflug-Tanguy Silvana De Lucia
Role Investigator Investigator Investigator Investigator
Sponsor ROCHE SANTHERA SANTHERA PTC
Fundings ROCHE SANTHERA SANTHERA PTC
Study status Closed Ongoing Ongoing Ongoing
Recruitment status Closed Ongoing Ongoing Ongoing
Population Child Child Child Child / Adult
+ infos onr clinicaltrials.gov + infos on clinicaltrials.gov + infos on clinicaltrials.gov

 

Studies of progression of the disease:

  • NatHis-DMD: Outcome measures in Duchenne Muscular Dystrophy: a Natural History Study
  • GNT-014-MDYF: Natural History of Duchenne Muscular Dystrophy – A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 6 Years
  • SRP4658-407: A Natural History Study in Patients with Duchenne Muscular Dystrophy Managed in Routine Clinical Practice

Database:

  • UMD-DMD: Database Dystrophinopathies (UMD-DMD France) (www.umd.be/DMD)

 

Acronym

NatHis-DMD

GNT-014-MDYF

SRP4658-407

UMD-DMD

Study Type RBM-HPS RBM-HPS Nat His Non-interventional data collection
Trial type International multicentre trial
Principal investigator Silvana De Lucia Silvana De Lucia Odile Boespflug-Tanguy Rabah Ben Yaou / France Leturcq / Sylvie Tuffery-Giraud
Sponsor AIM Gebethon SAREPTA French  dystrophinopathies molecular diagnosis laboratories + all NMD reference and competence centres
Fundings AIM Genethon SAREPTA
Study status Ongoing Ongoing In preparation  Ongoing
Recruitment status Closed Ongoing  Ongoing
Population Child Child Child  Adult / Child
Contact  r.benyaou@institut-myologie.org
+ infos on clinicaltrials.gov + infos on umd.be