Muscular DystrophiesNCT06666816
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
An observational study of Muscular Dystrophies and Myopathies, run by IRCCS Eugenio Medea at 2 sites in Italy.
Trial summary
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases. Furthermore, the investigators want to evaluate the feasibility of collecting physical activity in daily life conditions during a one-week monitoring… Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA)
- What is being tested?
- inapplicable
- How many people
- 120 participants
- Where
- 2 sitesItaly
- Study dates
- 27 Oct 2017to Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Potentially eligible participants will be selected from clinical databases of IRCCS Medea
Who may be able to join
- Ambulant adult patients with genetic diagnosis of muscular dystrophy/myopathy (dystrophinopathies, muscular dystrophies and congenital and non-congenital myopathies), of spinal muscular atrophy (SMA) and with molecular diagnosis of Charcot-Marie Tooth 1 or 2.
- independent walking, even with assistance;
Who cannot join
- Dilated or ischemic heart disease with moderate impairment;
- Chronic respiratory failure: forced vital capacity (FVC) < 40%; more than 5% of nocturnal time spent with peripheral oxygen saturation levels < 90.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy2 sites, 2 recruiting
- Recruiting
Scientific Institute IRCCS E. Medea - Sede di Bosisio Parini
Bosisio Parini, Lecco, 23842
Fabio A Storm, PhD, +39031877111, fabio.storm@lanostrafamiglia.it
Emilia Biffi, Phd, emilia.biffi@lanostrafamiglia.it
- Not yet recruiting
Scientific Institute IRCCS E. Medea - Polo di Conegliano
Conegliano, Treviso, 31015
Eleonora Martini, MD, eleonora.martini@lanostrafamiglia.it
About this study
Official title: Observational Study for the Identification of Fatigue and Gait Biomarkers in Populations With Neuromuscular Pathologies in the Clinical Context and Daily Life
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases. Furthermore, the investigators want to evaluate the feasibility of collecting physical activity in daily life conditions during a one-week monitoring period using a wearable sensor.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Being tested
- inapplicable
- Medical subject headings
- Muscular Dystrophies, Muscular Diseases, Muscular Atrophy, Spinal, Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
inapplicableOther
inapplicable
| Study group | Role | What they receive |
|---|---|---|
| Group with neuromuscular disease | Not described Receives: Other: inapplicable | |
| Control Group | Not described Receives: Other: inapplicable |
What is being measured
The primary outcome is the main question the study is designed to answer.
Variation in walking speed during a 6-minutes walking test
Variation in walking speed calculated as difference between the first and the final minute of the a 6-minutes walking test
Measured: Baseline
Subjective fatigue
Evaluation of subjective fatigue using the Fatigue Severity Scale (FSS). The minimum value is 0, the maximum is 63. Higher scores mean worse outcome.
Measured: Baseline
Secondary outcomes (3)
Clinical progression of the neuromuscular disease
Progression of the neuromuscular disease using the Motor Function Measure-32 (MFM-32); the minimum score is 0, the maximum score is 100. Higher values mean better outcome.
Measured: Baseline
Clinical progression of the neuromuscular disease
Progression of the neuromuscular disease using the Hammersmith Functional Motor Scale- Expanded (HFMS-E); the minimum value is 0, the maximum value is 69. Higher values mean better outcome.
Measured: Baseline
Variation in gait variability during the 6-Minutes Walking Test
Variation of step duration during the 6MWT extracted from a wearable inertial sensor. Measured in coefficient of variation (%). Higher values mean worse outcome.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Oct 2024
- Study start27 Oct 2017
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (17)Papers the sponsor has linked to this study.
- Other trials for Muscular DystrophiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06666816
- Sponsor's protocol ID
- GIP1112
- Other IDs
- RC 2024-2026 to E. Biffi
- Status last verified
- Jan 2026
- First submitted
- 25 Oct 2024
- Last updated
- 20 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The results obtained at the end of this clinical trial will be presented at national and international conferences and submitted to peer-reviewed international journals. The raw data of the study will be published among the supplementary materials of scientific articles and/or uploaded to Zenodo, a multidisciplinary repository, managed by CERN in Geneva, which allows researchers to share and preserve research results in any size and form. Depositing data in ZENODO guarantees their compliance with the FAIR principles.
Publications
Rabinovich RA, Louvaris Z, Raste Y, Langer D, Van Remoortel H, Giavedoni S, Burtin C, Regueiro EM, Vogiatzis I, Hopkinson NS, Polkey MI, Wilson FJ, Macnee W, Westerterp KR, Troosters T; PROactive Consortium. Validity of physical activity monitors during daily life in patients with COPD. Eur Respir J. 2013 Nov;42(5):1205-15. doi: 10.1183/09031936.00134312. Epub 2013 Feb 8.
PubMed 23397303O'Hagen JM, Glanzman AM, McDermott MP, Ryan PA, Flickinger J, Quigley J, Riley S, Sanborn E, Irvine C, Martens WB, Annis C, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 2007 Oct;17(9-10):693-7. doi: 10.1016/j.nmd.2007.05.009. Epub 2007 Jul 19.
PubMed 17658255Berard C, Payan C, Hodgkinson I, Fermanian J; MFM Collaborative Study Group. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005 Jul;15(7):463-70. doi: 10.1016/j.nmd.2005.03.004.
PubMed 16106528Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989 Oct;46(10):1121-3. doi: 10.1001/archneur.1989.00520460115022.
PubMed 2803071ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002 Jul 1;166(1):111-7. doi: 10.1164/ajrccm.166.1.at1102. No abstract available.
PubMed 12091180Erratum: ATS Statement: Guidelines for the Six-Minute Walk Test. Am J Respir Crit Care Med. 2016 May 15;193(10):1185. doi: 10.1164/rccm.19310erratum. No abstract available.
PubMed 27174486Mikolaizak AS, Rochester L, Maetzler W, Sharrack B, Demeyer H, Mazza C, Caulfield B, Garcia-Aymerich J, Vereijken B, Arnera V, Miller R, Piraino P, Ammour N, Gordon MF, Troosters T, Yarnall AJ, Alcock L, Gassner H, Winkler J, Klucken J, Schlenstedt C, Watz H, Kirsten AM, Vogiatzis I, Chynkiamis N, Hume E, Megaritis D, Nieuwboer A, Ginis P, Buckley E, Brittain G, Comi G, Leocani L, Helbostad JL, Johnsen LG, Taraldsen K, Blain H, Driss V, Frei A, Puhan MA, Polhemus A, Bosch de Basea M, Gimeno E, Hopkinson NS, Buttery SC, Hausdorff JM, Mirelman A, Evers J, Neatrour I, Singleton D, Schwickert L, Becker C, Jansen CP; clinical validation study (WP4) on behalf of Mobilise-D consortium. Connecting real-world digital mobility assessment to clinical outcomes for regulatory and clinical endorsement-the Mobilise-D study protocol. PLoS One. 2022 Oct 6;17(10):e0269615. doi: 10.1371/journal.pone.0269615. eCollection 2022.
PubMed 36201476Mazza C, Alcock L, Aminian K, Becker C, Bertuletti S, Bonci T, Brown P, Brozgol M, Buckley E, Carsin AE, Caruso M, Caulfield B, Cereatti A, Chiari L, Chynkiamis N, Ciravegna F, Del Din S, Eskofier B, Evers J, Garcia Aymerich J, Gazit E, Hansen C, Hausdorff JM, Helbostad JL, Hiden H, Hume E, Paraschiv-Ionescu A, Ireson N, Keogh A, Kirk C, Kluge F, Koch S, Kuderle A, Lanfranchi V, Maetzler W, Mico-Amigo ME, Mueller A, Neatrour I, Niessen M, Palmerini L, Pluimgraaff L, Reggi L, Salis F, Schwickert L, Scott K, Sharrack B, Sillen H, Singleton D, Soltani A, Taraldsen K, Ullrich M, Van Gelder L, Vereijken B, Vogiatzis I, Warmerdam E, Yarnall A, Rochester L. Technical validation of real-world monitoring of gait: a multicentric observational study. BMJ Open. 2021 Dec 2;11(12):e050785. doi: 10.1136/bmjopen-2021-050785.
PubMed 34857567Storm FA, Nair KPS, Clarke AJ, Van der Meulen JM, Mazza C. Free-living and laboratory gait characteristics in patients with multiple sclerosis. PLoS One. 2018 May 1;13(5):e0196463. doi: 10.1371/journal.pone.0196463. eCollection 2018.
PubMed 29715279Goldhahn J. Need for Digital Biomarkers in Musculoskeletal Trials. Digit Biomark. 2017 Aug 17;1(1):82-86. doi: 10.1159/000479753. eCollection 2017 Sep-Dec.
PubMed 32095748Stull DE, Leidy NK, Parasuraman B, Chassany O. Optimal recall periods for patient-reported outcomes: challenges and potential solutions. Curr Med Res Opin. 2009 Apr;25(4):929-42. doi: 10.1185/03007990902774765.
PubMed 19257798Leale I, Giustino V, Trapani P, Alonge P, Rini N, Cutro I, Leone O, Torrente A, Lupica A, Palma A, Roccella M, Brighina F, Di Stefano V, Battaglia G. Physical Activity in Patients with Neuromuscular Disease Three Years after COVID-19, a Longitudinal Survey: The After-Effects of the Quarantine and the Benefits of a Return to a Healthier Life-Style. J Clin Med. 2024 Jan 3;13(1):265. doi: 10.3390/jcm13010265.
PubMed 38202272Kennedy RA, Carroll K, McGinley JL, Paterson KL. Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease. J Foot Ankle Res. 2020 Mar 2;13(1):10. doi: 10.1186/s13047-020-0378-2.
PubMed 32122377Retory Y, David P, Niedzialkowski P, de Picciotto C, Bonay M, Petitjean M. Gait Monitoring and Walk Distance Estimation With an Accelerometer During 6-Minute Walk Test. Respir Care. 2019 Aug;64(8):923-930. doi: 10.4187/respcare.06144. Epub 2019 Jun 18.
PubMed 31213569Ghislieri M, Gastaldi L, Pastorelli S, Tadano S, Agostini V. Wearable Inertial Sensors to Assess Standing Balance: A Systematic Review. Sensors (Basel). 2019 Sep 20;19(19):4075. doi: 10.3390/s19194075.
PubMed 31547181