Duchenne Muscular Dystrophy

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

  • GNT-016-MDYF: A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination with Systemic Corticosteroids in Subjects with Non-ambulatory DMD
  • C3391002: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study To Evaluate The Safety And Efficacy Of PF-06939926 For The Treatment Of Non-Ambulatory Male Participants With DMD
  • 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
  • SRP4045-302 : Long-term, Open-label Extension Study for Patients With DMD Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen
  • MIS51ON : 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 DMD With Deletion Mutations 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 48: Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With DMD
  • Italfarmaco 51: 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
  • PTC-PASS: Long-Term Observational Study of Translarna safety and effectiveness in routine care
  • FGCL-3019-093: A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination with Systemic Corticosteroids in Subjects with Non-ambulatory DMD
  • FGCL-3019-094 : A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination with Systemic Corticosteroids in ambulatory subjects with DMD

 

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

  • GNT-014-MDYF: Natural History of Duchenne Muscular Dystrophy – A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 6 Years
  • C3391002: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study To Evaluate The Safety And Efficacy Of PF-06939926 For The Treatment Of Non-Ambulatory Male Participants With DMD

 

Acronym

GNT-016-MDYF

C3391002

Intervention GNT0004 PF-06939926
Principal investigator Silvana De Lucia Arnaud Isapof
Sponsor Généthon Pfizer
Study status In preparation In preparation
Recruitment status In preparation In preparation
Population Child Child
  + infos on clinicaltrials.gov

 

  • 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
  • SRP4045-302 : Long-term, Open-label Extension Study for Patients with Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen
  • MIS51ON: 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 DMD With Deletion Mutations 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

 

Acronym

Essence

SRP4045-302

MIS51ON

SRP 4856-102-OLE

Intervention Casimersen, Golodirsen and placebo Casimersen, Golodirsen Eteplirsen Eteplirsen
Principal investigator
Andreea Seferian Andreea Seferian Andreea Seferian Andreea Seferian
Sponsor SAREPTA SAREPTA SAREPTA SAREPTA
Fundings SAREPTA SAREPTA SAREPTA SAREPTA
Study status Ongoing Ongoing In preparation Ongoing
Recruitment status Ongoing Ongoing In Preparation Closed
Population Child Child Child Child
+ infos on clinicaltrials.org + infos on clinicaltrials.gov + infos on clinicaltrials.gov + infos on clinicaltrials.gov

 

  • Italfarmaco: Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With DMD
  • Italfarmaco 51: 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
  • PTC-PASS: Long-Term Observational Study of Translarna safety and effectiveness in routine care

 

Acronym

Italfarmaco 48

Italfarmaco 51

PTC-PASS

Intervention Givinostat Givinostat vs Placebo Ataluren
Principal investigator Odile Boespflug-Tanguy Odile Boespflug-Tanguy Silvana De Lucia
Sponsor Italfarmaco Italfarmaco PTC
Fundings Italfarmaco Italfarmaco PTC
Study status Ongoing Ongoing Ongoing
Recruitment status Closed Closed Closed
Population Child Child Child / Adult
+ infos on clinicaltrials.gov + infos sur clinicaltrials.gov + infos sur clinicaltrials.gov

 

  • FGCL-3019-093: A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination with Systemic Corticosteroids in Subjects with Non-ambulatory DMD
  • FGCL-3019-094: A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination with Systemic Corticosteroids in ambulatory subjects with DMD

 

Acronym

FGCL-3019-093

FGCL-3019-094

 

Intervention Pamrevlumab Pamrevlumab
Principal investigator Silvana De Lucia Silvana De Lucia
Role Investigator Investigator
Sponsor FibroGen FibroGen
Study status Ongoing Ongoing
Recruitment status Ongoing Ongoing
Population Child Child
+ 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

Principal investigator Silvana De Lucia Silvana De Lucia Odile Boespflug-Tanguy Rabah Ben Yaou / France Leturcq / Sylvie Tuffery-Giraud
Sponsor AIM Généthon 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  Ongoing
Population Child Child Child  Adult / Child
Contact  r.benyaou@institut-myologie.org
+ infos on clinicaltrials.gov + infos on umd.be