Ongoing trials - Institut Myologie

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

PTC-AADC-MA-406

A two-part, international, real-world observational registry of participants diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency, with or without treatment with eladocagene exuparvovec.

Code: PTC-AADC-MA-406
Disease: AADC deficiency
Principal investigator: Claudia Ravelli
Sponsor: PTC Therapeutics
Status: Active
Public: Paediatric

UMD FHL1 – FHL1 database

Non-interventional data collection on myopathies related to FHL1 gene abnormalities, gathering medical information and following the progression of patients.

Code: UMD-FHL1
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

UMD-DNM2 – Dynaminopathy databases

Non-interventional data collection on dynaminopathies, neuromuscular diseases caused by mutations in the DNM2 gene, which encodes dynamin 2, a protein involved in endocytosis and intracellular membrane trafficking as well as in the regulation of the actin and microtubule cytoskeletons.

Code: UMD-DNM2
Disease: Dynaminopathies
Principal investigator: Marc Bitoun / Valerie Biancalana
Sponsor: Inserm U974, Institut de Myologie / Laboratoire de diagnostic genetique, Hopital Universitaire de Strasbourg
Status: Ongoing
Public: Adults

OPALE National Registry – Laminopathy and emerinopathy observatory

A national registry collecting data on patients with laminopathies and emerinopathies, in order to follow their progression and compare the different forms of the disease.

Code: OPALE-National
Disease: Laminopathies and emerinopathies
Principal investigator: Karim Wahbi (PI), Gisele Bonne, Rabah Ben Yaou (coordonnateurs operationnels)
Sponsor: Institut de Myologie
Status: Ongoing
Public: Adults, Paediatric

DYNE101-DM1-201

A randomised, placebo-controlled, multiple-ascending-dose study evaluating the safety, tolerability, pharmacodynamics, efficacy and pharmacokinetics of DYNE-101 in participants with myotonic dystrophy type 1.

Code: DYNE101-DM1-201
Disease: Myotonic dystrophies
Principal investigator: Guillaume Bassez
Sponsor: DYNE Therapeutics
Status: Active
Public: Adults
Trial site: I-Motion Adults

View on ClinicalTrials.gov

NMD670

A phase 2a, randomised, double-blind, placebo-controlled study to evaluate the efficacy, safety and tolerability of NMD670 over 21 days in ambulatory adult patients with Charcot-Marie-Tooth disease type 1 and type 2.

Code: NMD670
Disease: Charcot-Marie-Tooth disease
Principal investigator: Marion Masingue
Sponsor: NMD Pharma
Status: Active
Public: Adults
Phase: Phase 2
Trial site: I-Motion Adults

View on ClinicalTrials.gov

PIP4 (MEX-NM-301)

An open-label, non-comparative study to evaluate the steady-state pharmacokinetics, safety and efficacy of mexiletine in adolescents and children with myotonic disorders.

Code: PIP4 (MEX-NM-301)
Disease: Myotonic dystrophies
Principal investigator: Arnaud Isapof
Sponsor: Lupin
Status: Ongoing
Public: Paediatric
Trial site: I-Motion Pediatric

View on ClinicalTrials.gov

Mitochondrial disease registry

Prospective follow-up of a cohort of adult patients with mitochondrial diseases (observational study).

Code: Registre-Mitochondriopathies
Disease: Mitochondrial diseases
Principal investigator: Pascal Laforet
Sponsor: Institut de Myologie
Status: Active
Public: Adults