Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders

NCT06605612 | Enrolling By Invitation

• 1 other identifier: 24-0636
• Study Type: observational
• Target: 108
• Locations: 1 country
• Sites: 1

Brief Summary

Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs). There is a clear medical unmet need to provide a battery of appropriate locomotor gait assessments to determine the risk of falling for patients with NMDs and give clear guidelines to prescribe an appropriate AGD. The primary goal is to confirm whether the clinical battery assessments (Heel-Rise Test (HRT), Chair-Rise Test (CRT), Semi-tandem Stand (STS), Trunk-Rise Test (TRT), Foot-Tapping Test (FTT), Timed Up and Go (TUG), 10-Meter-Walk Test (10MWT) and 6-Minute-Walk Test (6MWT) can be validated and generalized to other NMD target populations that meet broader eligibility criteria based on used clinical assessments. The second objective of this project is to provide intra- and inter-observer reliability and test-retest reliability of included clinical assessments used to determine the risk of falling for patients with NMDs. Finally, all data will be compared with norm data from the healthy population (n=15) collected retrospectively.

Conditions

Inclusion Body Myositis; Myotonic Dystrophy; Limb-girdle and Facioscapulohumeral Muscular Dystrophies; Pompe Disease; Myasthenia Gravis; Lambert-Eaton-Syndrome; Amyotrophic Lateral Sclerosis; Spinal Muscular Atrophy; Guillain-Barré Syndrome; Chronic Inflammatory Demyelinating Polyneuropathy; Friedreich Ataxia; Hereditary Motor Sensory Neuropathy

Keywords

Risk of falls; Neuromuscular Diseases; Neuromuscular Disorders; Risk of Falls Index; Assistive Gait Device

Outcome Measures

Primary Outcomes (8)

• Chair-Rise Test (CRT)

  This is a sit-to-stand test with five repetitions. Three sets will be performed, and the fastest one will be scored. In Group A, the test uses a bench with a height of 46 cm anchored to the force plate.Only the best rise will be analyzed to collect force and power data. The main outcome parameter is the time required to perform the five repeat movements. In Group A, the examiner will assess the performance time of five sit-to-stand movements from the first to last repetition and the power data (Pmax rel. W/kg) from the force plate. In Group B, the examiner will only record the time taken to complete the test.

  Immediately after the ICF is signed

• Trunk Rise Test (TRT)

  Participants slowly bend their knees with erect straight upper body until the fingertips touch their feet or lower leg on the inside and then cross the arms on their chest and grab their shoulders with their hands. The instructions will follow: "After the signal, rise as fast as possible, one time (movement compared to lifting a heavy object). You can use your arm to push yourself up on your thigh if you cannot get up without it". Three sets will be done, and the fastest result will be evaluated. In Groups A and B, the examiner will assess the performance time from the start position "forward bend 90°" to stand up straight and also assess whether participants use their arms or not to stand up straight. In Group A, time is assessed with power data (Pmax rel. W/kg) from the force plate. In Group B, the examiner will only record the time to perform the test on a solid concrete ground floor.

  Immediately after the ICF is signed

• Heel-Rise Test (HRT)

  It consists of five bilateral maximal heel rises to achieve a maximal speed of upward movement. Three sets will be done, and the fastest result will be evaluated. The instructions will follow: "Rise to the tip of your toes five-times in a row as fast and high as possible. It is important that you keep your knees straight. Cross your arms on your chest and grab your shoulders with your hands. Move to your tiptoes as fast and high as possible." In Group A, the examiner will assess the performance time of five bilateral heel rises from first to last, along with the power data (P.max rel. kg- W/kg) from the force plate. In Group B, the examiner will only record the time to perform five bilateral heel rises from first to last tiptoes on a solid concrete ground floor.

  Immediately after the ICF is signed

• Semi-Tandem stand, eyes open (STSeo) and eyes closed (STSeo)

  In this test, participants will be instructed to stand as still as possible in an upright position with both arms crossed in front of the upper body for starting, first with eyes open. Then eyes closed, in a Semi-Tandem stand as long as possible (for a maximum of 30 sec.). Three sets will be done. During the test, the Leonardo Mechanography system records the position of the center of pressure on the platform. In Group A, the time to the first drop or side-step is measured, up to a maximum of 30 seconds, together with power data (Ellip. Average cm) from the force plate. In Group B, the examiner records only the time to first drop or side-step, up to a maximum of 30 seconds. The Group B will do a semi-tandem stand on a solid concrete floor with a 1 cm wide line between the inside of the soles of the feet.

  Immediately after the ICF is signed

• Foot-Tapping Test (FTT) (sitting)

  The FTT is designed to assess coordination and reaction time for the foot. Sitting on a 46 cm high bench, the participant\'s task is to tap ten times with the same foot (dorsal flexion, plantar flexion) as quickly as possible while keeping the heel on the ground. The participants were instructed to tap first with their right foot 10 times as quickly as possible. The same procedure will be repeated with the left feet, and three sets of left/right will be carried out. The participants need to sit straight, with 90° between the lower and upper leg and crossed arms over the chest. In Group A, the time for 10- foot tappings together with power data (max frequency and average contact time) from the force plate will be assessed. In Group B, the examiner records only the time. In Group B, participants are seated on a 46 cm high bench or chair with no backrest.

  Immediately after the ICF is signed

• 10-Meter Walk Test

  Walking at maximum speed will be measured in a long corridor with an even surface over 10 meters with a still-standing start and a "flying" finish to a target 2.5 meters beyond the 10 m mark. The stopwatch started with the word "Go" ("Ready-Steady-Go").

  Immediately after the ICF is signed

• Six-Minute Walk test

  For the 6MWT, the individuals will be instructed to walk 30 m between two marks on the floor. After passing either mark, they will be told to turn and walk back. They will be instructed to walk as far as possible for six minutes and were allowed to rest (only while standing) and then to continue walking. They will be informed every minute of the remaining test time.

  Immediately after the ICF is signed

• Time Up and Go (TUG)

  The TUG test measures the time it takes to stand up from a chair, walk three meters, turn around and sit down in the same chair. The subjects start with arm support from a seated position in a chair of normal height (44-45 cm) with arms, walk at a comfortable and safe pace to a mark on the floor 3 meters away, turn around, walk back to the chair, turn again and sit down. Time is measured from the start of the moment until participants touch the chair backrest with their back.

  Immediately after the ICF is signed

Secondary Outcomes (1)

• The Falls Efficacy Scale-International (FES-I)

  Immediately after the ICF is signed

Study Arms (2)

Friedrich-Baur-Institute

All patients in group A will undergo single tests (cross-over design data):HRT, CRT, STS, FTT and TRT on the Leonardo Mechanograph® Ground Reaction Force Plate, assessing power and force data. Additionally, the time to perform the tests will be assessed manually. The 10MWT, 6MWT and TUG tests are performed without a ground reaction force plate and only time parameters are assessed. The group A will have an additional subgroup A1 of n=20 patients, which will be tested two times within two weeks to confirm intra-rater (n=10) and inter-rater reliability (n=10).No intervention will be carried out.

Diagnostic Test: FBIndex

Medical Park Bad Feilnbach

The group B will perform the same tests without using a force plate, assessing only the time parameters. No intervention will be carried out.

Diagnostic Test: FBIndex

Interventions

FBIndex DIAGNOSTIC_TEST

There will be no intervention.

Friedrich-Baur-Institute; Medical Park Bad Feilnbach

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Following neuromuscular diseases confirmed by the genetic report and/or clinical final diagnosis will be included in the study: inclusion body myositis, myotonic dystrophies, limb-girdle and facioscapulohumeral muscular dystrophies, Pompe disease, myasthenia gravis, Lambert-Eaton-Syndrome, amyotrophic lateral sclerosis, spinal muscular atrophy, Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, Friedreich-Ataxia, hereditary motor sensory neuropathy.

You may qualify if:

• Only patients with adequate cognitive and communicative function to give informed consent and to fill out the scale assessing the risk of falling will be included.

You may not qualify if:

• Patients who are unable to walk without AGD for at least 10 meters.
• Patients who had knee, hip or back surgery in the last three months.
• Patients who suffer from polyneuropathy or peripheral neuropathy.

Sponsors & Collaborators

• LMU Klinikum: lead
• Medical Park AG: collaborator

Study Sites (1)

Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, LMU Klinikum, Ludwig-Maximilians-Universität München

München, Bavaria, 80336, Germany

Location

Related Publications (7)

• Podsiadlo D, Richardson S. The timed "Up & Go": a test of basic functional mobility for frail elderly persons. J Am Geriatr Soc. 1991 Feb;39(2):142-8. doi: 10.1111/j.1532-5415.1991.tb01616.x.

  PMID: 1991946 BACKGROUND

• Dias N, Kempen GI, Todd CJ, Beyer N, Freiberger E, Piot-Ziegler C, Yardley L, Hauer K. [The German version of the Falls Efficacy Scale-International Version (FES-I)]. Z Gerontol Geriatr. 2006 Aug;39(4):297-300. doi: 10.1007/s00391-006-0400-8. German.

  PMID: 16900450 BACKGROUND

• Yardley L, Beyer N, Hauer K, Kempen G, Piot-Ziegler C, Todd C. Development and initial validation of the Falls Efficacy Scale-International (FES-I). Age Ageing. 2005 Nov;34(6):614-9. doi: 10.1093/ageing/afi196.

  PMID: 16267188 BACKGROUND

• DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmuller H. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6.

  PMID: 28168524 BACKGROUND

• Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.

  PMID: 22003934 BACKGROUND

• Runge M, Hunter G. Determinants of musculoskeletal frailty and the risk of falls in old age. J Musculoskelet Neuronal Interact. 2006 Apr-Jun;6(2):167-73.

  PMID: 16849828 BACKGROUND

• Dharmadasa T, Matamala JM, Huynh W, Zoing MC, Kiernan MC. Motor neurone disease. Handb Clin Neurol. 2018;159:345-357. doi: 10.1016/B978-0-444-63916-5.00022-7.

  PMID: 30482326 BACKGROUND

MeSH Terms

Conditions

Myositis, Inclusion Body; Myotonic Dystrophy; Muscular Dystrophy, Facioscapulohumeral; Glycogen Storage Disease Type II; Myasthenia Gravis; Lambert-Eaton Myasthenic Syndrome; Amyotrophic Lateral Sclerosis; Muscular Atrophy, Spinal; Guillain-Barre Syndrome; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Friedreich Ataxia; Hereditary Sensory and Motor Neuropathy; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Myositis; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Metabolism, Inborn Errors; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Paraneoplastic Syndromes; Autoimmune Diseases of the Nervous System; Neuromuscular Junction Diseases; Autoimmune Diseases; Immune System Diseases; Spinal Cord Diseases; Motor Neuron Disease; TDP-43 Proteinopathies; Proteostasis Deficiencies; Polyradiculoneuropathy; Demyelinating Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Post-Infectious Disorders; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Spinocerebellar Degenerations; Cerebellar Diseases; Mitochondrial Diseases; Nervous System Malformations; Congenital Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Scientific Worker (dr. rer. biol. hum.)

Study Record Dates

• First Submitted: September 9, 2024
• First Posted: September 20, 2024
• Study Start: September 9, 2024
• Primary Completion (Estimated): August 1, 2027
• Study Completion (Estimated): January 1, 2028
• Last Updated: September 10, 2025

Record last verified: 2025-09

Locations

DE (1)