Ongoing trials - Institut Myologie

Echostim-EFR

Ultrafast ultrasound for the functional assessment of the diaphragm: agreement with standard mechanical and electrophysiological variables, and diagnostic performance.

Code: Echostim-EFR
Disease: Cross-disease studies
Principal investigator: Damien Bachasson
Sponsor: AIM
Status: Active
Public: Adults
Trial site: I-Motion Adults

View on ClinicalTrials.gov

AVXS-101-LT-002

Long-term follow-up study of patients who received AVXS-101 in the clinical trials for spinal muscular atrophy.

Code: AVXS-101-LT-002
Disease: Spinal muscular atrophies
Principal investigator: Andreea Seferian
Sponsor: AveXis
Status: Active
Public: Paediatric
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

AZA-001-301

An 18-month, multicentre, phase 3, double-blind, randomised, placebo-controlled study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of Niemann-Pick disease type C and in late-infantile and juvenile forms of GM1 or GM2 gangliosidosis.

Code: AZA-001-301
Disease: Gangliosidosis
Principal investigator: Benedicte Heron
Sponsor: Azafaros
Status: In preparation
Public: Paediatric
Phase: Phase 3
Trial site: I-Motion Pediatric

ONYX

An open-label, multicentre extension study to evaluate the long-term safety and efficacy of apitegromab in patients with type 2 and type 3 spinal muscular atrophy who took part in previous apitegromab studies.

Code: ONYX
Disease: Spinal muscular atrophies
Principal investigator: Andreea Seferian
Sponsor: Scholar Rock
Status: Active
Public: Paediatric
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

GSD3 – Prospective patient follow-up

An observational study with prospective follow-up of patients with glycogen storage disease type III.

Code: GSD3
Disease: Glycogen storage disease type III
Principal investigator: P. Laforet et P. Labrune
Sponsor: AIM
Status: Active
Public: Adults

PHENO SMART

Characterisation of new phenotypes in patients with type 1, 2 and 3 infantile or juvenile spinal muscular atrophy treated with therapies that restore SMN protein expression.

Code: PHENO SMART
Disease: Spinal muscular atrophies
Principal investigator: Silvana De Lucia
Sponsor: UCL
Status: In preparation
Public: Paediatric
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

PTA17333 Avaglucosidase

A French multicentre, phase 4, open-label extension study of long-term safety and efficacy in patients with Pompe disease who previously took part in development studies.

Code: PTA17333 Avaglucosidase
Disease: Glycogen storage disease type II (Pompe disease)
Principal investigator: Anthony Behin
Sponsor: Sanofi
Status: Active
Public: Adults
Phase: Phase 4
Trial site: I-Motion Adults

View on ClinicalTrials.gov

Manatee Roche

A two-part, multicentre, randomised, placebo-controlled, double-blind study to investigate the safety, tolerability, pharmacokinetics, pharmacodynamics and efficacy of RO7204239 in combination with risdiplam in patients with spinal muscular atrophy.

Code: Manatee Roche
Disease: Spinal muscular atrophies
Principal investigator: Silvana De Lucia
Sponsor: Roche
Status: In preparation
Public: Paediatric
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

French Pompe disease registry

French registry for the follow-up of patients with Pompe disease and the collection of data on them.

Code: Registre-FR-Pompe
Disease: Glycogen storage disease type II (Pompe disease)
Principal investigator: Pascal Laforet
Sponsor: Institut de Myologie
Status: Active
Public: Adults

SRK-015-005 – OPALE

A phase 2 study evaluating the pharmacokinetics, pharmacodynamics, efficacy and safety of apitegromab in participants under 2 years of age with spinal muscular atrophy.

Code: SRK-015-005 – OPALE
Disease: Spinal muscular atrophies
Principal investigator: Andreea Seferian
Sponsor: Scholar Rock
Status: In preparation
Public: Paediatric
Phase: Phase 2
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

International Pompe disease registry

International registry for the follow-up of patients with Pompe disease.

Code: Registre-INT-Pompe
Disease: Glycogen storage disease type II (Pompe disease)
Principal investigator: Pascal Laforet (pour la France)
Sponsor: Sanofi
Status: Active
Public: Adults

R-SMA

A retrospective study of the natural history of the disease and real-world assessment of the effect of treatments in patients with spinal muscular atrophy.

Code: R-SMA
Disease: Spinal muscular atrophies
Principal investigator: Tanya Stojkovic
Sponsor: APHP
Status: Active
Public: Adults

View on ClinicalTrials.gov

UMD-EMD – Emerinopathy database

Non-interventional data collection on emerinopathies, gathering medical information and following the progression of patients with Emery-Dreifuss muscular dystrophy.

Code: UMD-EMD
Disease: Laminopathies and emerinopathies
Principal investigator: France Leturcq, Rabah Ben Yaou
Sponsor: Laboratoire de biochimie et genetique moleculaire GH Cochin + Centres de Reference des maladies neuromusculaires + Centre de recherche en myologie Institut de Myologie
Status: Ongoing
Public: Adults

NH-SMA / SMOB

Outcome measures and biomarkers in a cohort of patients with type 3 or type 4 spinal muscular atrophy (SMA).

Code: NH-SMA / SMOB
Disease: Spinal muscular atrophies
Principal investigator: Tanya Stojkovic
Sponsor: APHM
Status: Active
Public: Adults

View on ClinicalTrials.gov

UMD-LMNA – Laminopathy database

Non-interventional data collection on laminopathies, gathering medical information and following the progression of patients with Emery-Dreifuss muscular dystrophy.

Code: UMD-LMNA
Disease: Laminopathies and emerinopathies
Principal investigator: Gisele Bonne, Rabah Ben Yaou
Sponsor: Centre de recherche en myologie Institut de Myologie + UF de Cardiogenetique et Myogenetique Moleculaire et Cellulaire
Status: Ongoing
Public: Adults