Research projects

Research projects around MFM (metrological study, etc.) or use of MFM as an outcome measure in clinical trials

French Register of Patients With Spinal Muscular Atrophy (SMA)
Principal Investigator or sponsor: Assistance Publique – Hôpitaux de Paris.
Purpose: Retrospective and prospective register to obtain clinically meaningful data on survival and outcomes.
Eligibility: SMA subjects whatever the age.
Enrollment: Start of inclusion: 2020.
Reference: ClinicalTrials: NCT04177134
Aerobic Exercise in Duchenne Muscular Dystrophy
Principal Investigator or sponsor: Hacettepe University.
Purpose: To compare with children with DMD and healthy peers in terms of muscle architectural properties and motor functions, and investigate the effects of aerobic training on these parameters in children with DMD
Eligibility: DMD subjects and healthy children aged 5-12 years.
Enrollment: Start of inclusion: 2019.
Reference: ClinicalTrials: NCT04173234
Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE)
Principal Investigator or sponsor: Fulcrum Therapeutics.
Purpose: Open-label extension to evaluate the safety and tolerability of long-term dosing of Losmapimod in patients with FSHD1 who participated in the ReDux4 study.
Eligibility: FSHD1 subjects of age 18-65 years with a confirmed diagnosis and with 1 to 9 repeats.
Enrollment: Start of inclusion: 2020.
Reference: ClinicalTrials: NCT04264442
LAMA2 rTNHS: Retrospective Natural History Study of LAMA2 in Infants and Toddlers
Principal Investigator or sponsor: Prothelia, Inc.
Purpose: To study the disease natural history of infants and todlers with Merosin Deficient Congenital Muscular Dystrophy LAMA2 through a retrospective study.
Eligibility: LAMA2-CMD subjects aged 0-5 years.
Enrollment: Start of inclusion: 2020.
Reference: ClinicalTrials: NCT04299321
Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy
Principal Investigator or sponsor: Fulcrum Therapeutics.
Purpose: To evaluate the safety and efficacy of Losmapimod in treating patients with Facioscapulohumeral Muscular Dystrophy (FSHD) over 24 weeks.
Eligibility: FSHD1 subjects of age 18-65 years with a confirmed diagnosis and with 1 to 9 repeats.
Enrollment: Start of inclusion: 2019.
Reference: ClinicalTrials: NCT04003974
Evaluation of Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments of Losmapimod for FSHD1
Principal Investigator or sponsor: Fulcrum Therapeutics.
Purpose: To evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments of Losmapimod for patients with Facioscapulohumeral Muscular Dystrophy 1.
Eligibility: FSHD1 subjects age 18-65 years.
Enrollment: Start of inclusion: 2019.
Reference: ClinicalTrials: NCT04004000
Limb-Girdle Muscular Dystrophy Type 2I in Norway
Principal Investigator or sponsor: Synnove Jensen, Norway National Neuromuscular Centre, Tromsø, Norway.
Purpose: To establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and progression.
Eligibility: Limb-girdle muscular dystrophy type 2I genetically confirmed and living in Norway.
Enrollment: Start of inclusion: 2019.
Reference: ClinicalTrials: NCT03930628
NEMTRAIN study: Inspiratory Muscle Training in Nemaline Myopathy
Principal Investigator or sponsor: Jonne Doorduin, Radboud university medical center, Nijmegen, Netherlands.
Purpose: To determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients.
Eligibility: Genetically-confirmed nemaline myopathy between the age of 6-80 years.
Enrollment: Start of inclusion: 2019.
Reference: ClinicalTrials: NCT03728803
RETRO study: A RETROspective Study of Patients With TK2d
Principal Investigator or sponsor: Modis Therapeutics, Inc.
Purpose: Collection of retrospective data from Thymidine Kinase 2 deficiency patients previously treated with deoxycytidine/deoxythymidine.
Eligibility: Adult and child patients with TK2 deficiency who have received treatment with pyrimidine nucleosides.
Enrollment: Inclusion between 2018 and 2019.
Reference: ClinicalTrials: NCT03701568
Feasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback
Principal Investigator or sponsor: Merve Kurt, Dokuz Eylul University.
Purpose: To determine the feasibility of virtual reality training in children with neuromuscular diseases.
Eligibility: Neuromuscular disease patients aged 6 to 18 years.
Enrollment: Start of inclusion: 2018.
Reference: ClinicalTrials: NCT03689660
Validation of Completion of Items 18, 19 and 22 of the Motor Function Measure (MFM) on a Digital Tablet (MFM-tablet)
Principal Investigator or sponsor: Carole Vuillerot, Hospices Civils de Lyon, Fr.
Purpose: Evaluate the differences in the scoring of 3 MFM items (items 18, 19 and 22) completed on a tablet or on paper.
Eligibility: Neuromuscular disease patients aged 5 to 60 years.
Enrollment: 2018
Reference: ClinicalTrials: NCT03465358
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD
Principal Investigator or sponsor: University of Kansas Medical Center.
Purpose: Develop new outcome measure in FSHD.
Eligibility: Ambulant FSHD, aged between 18 and 75 years old.
Enrollment: Start of inclusion: 2018
Reference: ClinicalTrials: NCT03458832
Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO)
Principal Investigator or sponsor: Audentes Therapeutics.
Purpose: Phase 1/2 study with ascending-dose to evaluate the safety and efficacy of AT132 in subjects with X-Linked Myotubular Myopathy.
Eligibility: Patients aged less than 5 years old.
Enrollment: Start of inclusion: 2018
Reference : ClinicalTrials : NCT03199469
AAV2/8-LSPhGAA in Late-Onset Pompe Disease
Principal Investigator or sponsor: Actus Therapeutics, Inc., Duke University, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
Purpose: To objectively assess the safety and bioactivity of AAV2/8-LSPhGAA in subjects diagnosed with Pompe disease.
Eligibility: Patients over 18 years old.
Enrollment: Start of inclusion: 2018
Reference: ClinicalTrials: NCT03533673
The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory (PedsQLTM) (Val PedsQL DMD)
Principal Investigator or sponsor: Dr Claude Cances, Université de Toulouse, Fr.
Purpose: Evaluate the validity of the French version of the DMD module of the PedsQLTM 3.0 scale.
Eligibility: DMD patients aged between 8 and 18 years old.
Enrollment: Start of inclusion: 2018
Reference: ClinicalTrials: NCT03513367
Tamoxifen in Duchenne Muscular Dystrophy (TAMDMD)
Principal Investigator or sponsor: Dirk Fischer, University Hospital, Basel, Suisse.
Purpose: Randomised placebo controlled study evaluating effect of 20 mg of tamoxifen in DMD patients.
Eligibility: DMD patients aged between 6.5 and 12 years old.
Enrollment: Start of inclusion: 2018
Reference: ClinicalTrials: NCT03354039
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM)
Principal Investigator or sponsor: Laurent Servais, Institut de Myologie, Fr.
Purpose: Extension of the natural history study of patients with myotubular myopathy, with inclusion of 20 additional patients with other centronuclear myopathies.
Eligibility: Male or symptomatic female patient with Myotubular Centronuclear myopathy.
Enrollment: Start of inclusion: 2017
Reference: ClinicalTrials: NCT03351270
IO-SMA-Registry : European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
Principal Investigator or sponsor: Institut de Myologie, France.
Purpose: Registry aiming to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.
Eligibility: SMA diagnosed before 18 months old.
Enrollment: Start of inclusion: 2017
Reference: ClinicalTrials: NCT03339830
Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis
Principal Investigator or sponsor: National Institute of Environmental Health Sciences (NIEHS).
Purpose: To test if sodium thiosulfate can treat people with dermatomyositis with calcinosis.
Eligibility: Dermatomyositis with calcinosis aged at least 7 years old.
Enrollment: Start of inclusion: 2017
Reference: ClinicalTrials: NCT03267277
Etude Sunfish : A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants
Principal Investigator or sponsor: Hoffmann-La Roche.
Purpose: To assess the safety, tolerability, pharmacokinetic, pharmacodynamics, and efficacy of RO7034067 in SMA.
Eligibility: Type 2 or 3 SMA ambulant or non-ambulant, aged 2-25 years old.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02908685
Analysis of a Virtual Reality Task in Patients With Duchenne Muscular Dystrophy
Principal Investigator or sponsor: Carlos BM Monteiro, University of Sao Paulo.
Purpose: Evaluation of the performance of interaction devices used in a computer game in people with DMD.
Eligibility: DMD patients, aged 9-34 years old.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02891434
Etude iFocus : Facioscapulohumeral Dystrophy in Children
Principal Investigator or sponsor: RJL Goselink, Prof Dr Baziel van Egnelen, University Medical Center Nijmegen.
Purpose: Study of the symptoms, natural history and clinical impact of FSHD in children.
Eligibility: FSHD1 or FSHD2 patients, aged 0-17 years old.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02625662
A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy
Principal Investigator or sponsor: Hoffmann-La Roche.
Purpose: To evaluate the safety of olesoxime in participants with spinal muscular atrophy.
Eligibility: Participation in the previous studies TRO19622CLEQ1115-1 or TRO19622CLEQ1275-1.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02628743
L-Citrulline in Patients With Post-Polio Syndrome
Principal Investigator or sponsor: Dirk Fischer, University Hospital, Basel, Suisse.
Purpose: To show that the intake of L-citrulline improves muscle function in patients with Post-Polio Syndrome
Eligibility: Patients aged at least18 years old.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02801071
Etude INCEPTUS : A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
Principal Investigator or sponsor: Audentes Therapeutics.
Purpose: Non interventional, pre-Phase 1 prospective study aiming to study the natural history of XLMTM.
Eligibility: Male patients, up to 3 years old.
Enrollment: Start of inclusion: 2016
Reference: ClinicalTrials: NCT02704273

 

Etude OXYNEMU : Muscle Oxygenation in Effort in Neuromuscular Diseases
Principal Investigator or sponsor: Dr Vincent Tiffreau, CHRU Lille.
Purpose: The study aim at assessing muscle oxygenation during effort in different neuromuscular diseases compared to a group of healthy controls.
Eligibility: Healthy subjects and subjects affected by of a neuromuscular disease able to walk.
Enrollment: Start of inclusion: 2015
Reference: ClinicalTrials: NCT02789059
Etude SelNac : Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)
Principal Investigator or sponsor: Brigitte Estournet, Hôpital Raymond Poincaré, Garches, France.
Purpose: To determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM).
Eligibility: Patients aged 18 to 60 years old.
Enrollment: Start of inclusion: 2015
Reference: ClinicalTrials: NCT02505087
Amifampridine Phosphate for the Treatment of Pediatric Congenital Myasthenic Syndromes

Principal Investigator or sponsor: Sumit Verma, Children’s Healthcare of Atlanta, US.
Purpose: Randomized, double-blind, controlled study aiming to evaluate the efficacy and safety of amifampridine phosphate in 10 patients diagnosed with  Congenital Myasthenic Syndromes.
Eligibility: Patients aged 2 to 17 years old.
Enrollment: Start of inclusion: 2016.
Reference: ClinicalTrials: NCT02562066

Etude Nathis-SMA : Prospective Study of the Natural History of Patients With Type 2 and 3 Spinal Muscular Atrophy
Principal Investigator or sponsor: Laurent Servais, Institut de Myologie, Fr.
Purpose: Natural history study, prospective, longitudinal and interventional of patients with type 2 and 3 Spinal Muscular Atrophy (SMA).
Eligibility: Patients aged 2 to 30 years old.
Enrollment: Start of inclusion: 2015.
Reference: ClinicalTrials: NCT02391831
HALO-DMD-03 : HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02

Principal Investigator or sponsor: Diana M Escolar, Askashi Therapeutics, US.
Purpose: Open-label aiming at studying the safety, tolerability, and dose selection for a future trial of HT-100 in boys with DMD.
Eligibility: DMD patients already included in studies HALO-DMD-01 and HALO-DMD-02.
Enrollment: Start of inclusion: 2015.
Reference: ClinicalTrials: NCT02525302

Etude EMOTAS : Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3
Principal Investigator or sponsor: Stephanie Delstanche, Centre de référence des maladies neuromusculaire de Liège, Belgique.
Purpose: To evaluate safety and efficacy of anti-cholinesterase therapy on the motor function in SMA type 3 patients.
Eligibility: Ambulant patients aged at least 6 years old.
Enrollment: Start of inclusion: 2014.
Reference: ClinicalTrials: NCT02227823
ExerASI : Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA)

Principal Investigator or sponsor: Brigitte Estournet, Hôpital Raymond Poincaré, Purpose: To test a new physio-therapeutic approach tailored to type 2 and 3 Spinal Muscular Atrophy patients, based on physical training in swimming-pool.
Eligibility: SMA type II or III, aged 5 to 10 years, with a minimal MFM score > 35.
Enrollment: Start of inclusion: 2014.
Reference: ClinicalTrials: NCT02061189

Ability of Muscle Imaging and Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy Patients Compared to Healthy Volunteers.

Principal Investigator or sponsor: Hoffmann-La Roche.
Purpose: This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance imaging (MRI) and the Muscle Function Measure (MFM) test.
Eligibility: Ambulant patients with SMA and age- and gender-matched healthy volunteers.
Enrollment: Start of inclusion: 2014.
Reference: ClinicalTrials: NCT02044029

L-citrulline and Metformin in Duchenne's Muscular Dystrophy

Principal Investigator or sponsor: Ulrike Bonati, University Children’s Hospital, Basel, Switzerland
Purpose:  To show that the intake of L-citrulline and metformin improves muscle function and delay progression in patients with DMD.
Eligibility: DMD patients aged 7 to 10 years old, ambulant, with a minimum MFM-D1 score > 40 %.
Enrollment: Start of inclusion: 2013.
Reference: ClinicalTrials: NCT01995032

L-citrulline and Metformin in Becker's Muscular Dystrophy

Principal Investigator or sponsor: Ulrike Bonati, University Children’s Hospital, Basel, Switzerland.
Purpose: To compare the effects of L-citrulline and metformin and their combination therapy on muscle function and force in patients with Becker muscular dystrophy (BMD).
Eligibility: Ambulant BMD patients aged 18 years and older.
Enrollment: Start of inclusion: 2013.
Reference: ClinicalTrials: NCT02018731

Etude TROPHOS : Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients.

Principal Investigator or sponsor: Enrico Bertini, Babino Gesu Hospital, Italie.
Purpose: This study is a multicenter, double-blind, randomized, adaptive, parallel groups, placebo controlled 3-stage study in patients with SMA type 2 or non ambulant type 3. The study aim at assessing the efficacy and the safety of olesoxime in SMA.
Eligibility: Non ambulant SMA type 2 and 3, aged 3 to 25 years old.
Enrollment: Inclusion between 2010 and 2012.
Reference: ClinicalTrials: NCT01302600
Press releasehttp://www.trophos.com/news/fr_pr20140310.htm

Efficacy of an Individual Rehabilitation Program in Polymyositis and Dermatomyositis

Principal Investigator or sponsor: André Thèvenon, CHU de Lille, France.
Purpose: To evaluate the benefit at mid term (12 months) of an active rehabilitation program administrated to patients affected by polymyositis and dermatomyositis.
Eligibility: Polymyositis and dermatomyositis, aged from 18 to 65 years.
Enrollment: Inclusion between 2010 and 2011.
Reference: ClinicalTrials: NCT01415219 

Clinical Assessment of Spinal Muscular Atrophy Type II and III

Principal Investigator or sponsor: Laurent Servais, Institut de Myologie, France.
Purpose: Assessment of patients with Spinal Muscular Atrophy (SMA) at inclusion, after 6 and 12 months, using MFM-20, MFHMFS, 6 minute walk test, PedsQL – neuromuscular module, Upper Limb Functional Items, and Egen Klassifikation 2 questionnaire – EK2.
Eligibility: SMA type 2 or 3, aged between 30 months and 18 years old.
Enrollment: Inclusion between 2011 and 2013.
Reference: ClinicalTrials: NCT01611610

No Use is Disuse: what can we gain upon functionality with exercise in boys with Duchenne Muscular Dystrophy?

Principal Investigator or sponsor: Imelda J.M. de Groot, Radboud University Nijmegen Medical Centre, Pays Bas.
Purpose: The No Use is Disuse (NUD) study aim at examine whether a low-intensity physical training is beneficial in terms of preservation of muscle endurance and functional abilities to boys with Duchenne Muscular Dystrophy (DMD).
Eligibility: DMD with a DNA established diagnosis, ambulant or recently confined to a wheelchair.
Enrollment: Inclusion between 2009 and 2010.
Reference: Netherlands Trial Register: NTR1631
Publication of results : http://www.ncbi.nlm.nih.gov/pubmed/23884013

Etude ULENAP: Upper Limb Evaluation in Non Ambulatory Patients With Neuromuscular Disorder

Principal Investigator or sponsor: Laurent Servais, Institut de myologie, Paris.
Purpose: Study of the relevance of a clinical test, the Moviplate, to assess muscle strength in the upper limbs of non ambulants patients with a neuromuscular diseases.
Eligibility: Patients with a confirmed neuromuscular disease, non ambulants, aged from 8 to 30 years old.
Enrollment: Inclusion between 2009 and 2011.
Reference: ClinicalTrials: NCT00993161
Publication of results:
 http://www.ncbi.nlm.nih.gov/pubmed/23219352

DELPHI Extension : Long-term Safety, Tolerability and Efficacy of Idebenone in Duchenne Muscular Dystrophy

Principal Investigator or sponsor: Thomas Meier, University of Leuven, Belgique.
Purpose: The scientific aim of the extension study is to monitor long-term safety and tolerability of idebenone in patients with Duchenne Muscular Dystrophy DMD. Furthermore, the long-term effect on respiratory, cardiac and motor functions, and skeletal muscle strength/function are assessed.
Eligibility: DMD with a body weight = 25 kg and completed the study SNT-II-001.
Enrollment: Inclusion between 2008 and 2011.
Reference: ClinicalTrials: NCT00758225

ASIRI study: Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA)

Principal Investigator or sponsor: Brigitte Estournet, Hôpital Raymond Poincaré, Garches, France.
Purpose: This is a multicentric, randomized, double-blind study versus placebo, with two parallel groups treated to evaluate the efficacy and the tolerance of Riluzole in patients with Spinal Muscular Atrophy (SMA).
Eligibility: SMA type 2 or 3, aged from 6 to 20 years old.
Enrollment: Inclusion between 2008 and 2011.
Reference: ClinicalTrials: NCT00774423

Validation of a short form for young children with neuromuscular diseases.

Principal Investigator or sponsor: Capucine de Lattre, service l’Escale, Hospices Civils de Lyon, France.
Purpose: For clinical trials involving young children, the standard MFM (MFM-32) is not well suited as an outcome measure: achievement of some items is too difficult in terms of children’s cognitive and motor development. The aim of the present study was therefore to construct and validate a short form of the MFM that is suitable for children <7 years old.
Eligibility: Children from 2 to 7 years old with a neuromuscular disease.
Enrollment: Inclusion between 2008 and 2009.
Publication of results:  http://www.ncbi.nlm.nih.gov/pubmed/23602884

Evolution of motor function in patients with Duchenne muscular dystrophy (DMD) treated with steroids

Principal Investigator or sponsor: Elaine Cristina da Silva, Maria Bernadete Dutra Resende, Umbertina Conte Reed, Hospital das Clínicas da Faculdade de Medicina de São Paulo- HCFM-USP.
Purpose: To assess the evolution of motor function in patients with Duchenne muscular dystrophy (DMD) treated with steroids for 18 months through the MFM.
Eligibility: DMD patients aged six to 16 years-old, ambulant or non-ambulant.
Enrollment: Inclusion between 2007 and 2010.
Publication of results:  http://www.ncbi.nlm.nih.gov/pubmed/22392111

Open-Label Phase Ib, Dose-ranged, Single and Multiple Dose Study to assess Safety and Pharmacokinetics of TRO19622 in 6-20 year old Spinal Muscular Atrophy (SMA) patients

Purpose: To assess the safety, the tolerability and the pharmacokinetic of single and multiple oral.
Eligibility: SMA type Ib, II or III, aged 6 to 25 years, with a minimal MFM score of 12.
Enrollment: Inclusion in 2007
Reference: Orphanet Database: Clinical trial 2007-253

Histoire naturelle des Calpaïnopathies

Principal Investigator or sponsor: Andoni Urtizbérea, Centre hospitalier hélio-marin, Hendaye, France.
Purpose: Multicentric study of the natural history of 83 patients with calpainopathy.
Eligibility: Patients with calpainopathy..
Enrollment: Start of inclusion: 2004
Reference: Orphanet Database: Clinical trial 2006-204