Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases

NCT06666816 | Recruiting

• 2 other identifiers: GIP1112RC 2024-2026 to E. Biffi
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 2

Brief 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 period using a wearable sensor.

Conditions

Charcot Marie Tooth Disease; Muscular Dystrophies; Myopathies; Spinal Muscular Atrophy (SMA)

Outcome Measures

Primary Outcomes (2)

• 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

  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.

  Baseline

Secondary Outcomes (3)

• Clinical progression of the neuromuscular disease

  Baseline

• Clinical progression of the neuromuscular disease

  Baseline

• Variation in gait variability during the 6-Minutes Walking Test

  Baseline

Other Outcomes (3)

• Acceptability of the activity monitoring device during daily life

  Baseline

• User friendliness of the activity monitoring device during daily life

  Baseline

• Physical activity in daily life

  Baseline

Study Arms (2)

Group with neuromuscular disease

Other: inapplicable

Control Group

Other: inapplicable

Interventions

inapplicable OTHER

inapplicable

Control Group; Group with neuromuscular disease

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Potentially eligible participants will be selected from clinical databases of IRCCS Medea

You may qualify if:

• 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;

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (2)

Scientific Institute IRCCS E. Medea - Sede di Bosisio Parini

Bosisio Parini, Lecco, 23842, Italy

RECRUITING

Scientific Institute IRCCS E. Medea - Polo di Conegliano

Conegliano, Treviso, 31015, Italy

NOT YET RECRUITING

Related Publications (17)

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• ATS 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.

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• Erratum: 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.

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• Storm FA, Diella E, Molteni LE, Delle Fave M, Meola G, Biffi E, D'Angelo MG. Minute-by minute gait variations during the 6-Minute walk test in subjects with myotonic dystrophy type 1. J Neuromuscul Dis. 2026 Feb 12:22143602251400499. doi: 10.1177/22143602251400499. Online ahead of print.

  PMID: 41678415 DERIVED

MeSH Terms

Conditions

Muscular Dystrophies; Muscular Diseases; Muscular Atrophy, Spinal; Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Spinal Cord Diseases; Central Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Heredodegenerative Disorders, Nervous System; Polyneuropathies; Peripheral Nervous System Diseases; Congenital Abnormalities

Central Study Contacts

Fabio A Storm, PhD

CONTACT

+39031877111; fabio.storm@lanostrafamiglia.it

Emilia Biffi, PhD

CONTACT

+39031877111; emilia.biffi@lanostrafamiglia.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 25, 2024
• First Posted: October 31, 2024
• Study Start: October 27, 2017
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: January 20, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP

Locations

IT (2)