Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1 (CABLAMYD)

February 16, 2024 updated by: Istituto Auxologico Italiano

Impairment of balance and gait are frequent complaints in patients with myotonic dystrophy type 1 (DM1). In these persons, there is an increased risk for stumbles and falls when compared to normal subjects. An underestimated cause of falls might be the weakness of neck flexor muscles (due to cervical ataxia). It is well known that fibres of muscle spindles are receptors combining a specialized sub-set of muscle fibers with a specialized array of both sensory and motor nerve fibers. Spindles transduce into neural afferent discharges the muscle length and length changes. They are very dense in deep neck muscles, are crucial to body balance and gage orientation, and are severely affected in DM1. Preliminary results suggest that falls could reflect imbalance. These indicate that cervical ataxia may come into play because of muscle spindle fibre disruption. In light of the current knowledge on the physiology of balance and on the association between balance deficits and cervical dystonia in other clinical conditions (e.g., whiplash injury), a rationale is therefore offered to a confirmation of the hypothesis that DM1 patients may suffer from cervical ataxia.

The primary endpoint is the demonstration of an association between balance deficits in standing and cervical proprioception deficit in adults affected by Myotonic dystrophy 1.

Secondary endpoints are:

  • the investigation of the correlation among the two deficits and the clinical conditions of patients,
  • the definition of normative data in the measure of cervical proprioception in a sample of healthy participants.

It is expected that high scores in postural balance, obtained on the posturographic Equitest™-Sensory Organization Test-SOT, correspond to high levels of repositioning accuracy in tests of cervical repositioning and low SOT scores correspond to low accuracy. Moreover, it is expected that an association exists among the two deficits and the clinical situation of the patients. Results from the present pilot study will allow an estimate of the sample size for future experimental protocols. The evidence for an association between balance deficits and cervical ataxia would be of obvious relevance to the patients. This would also support the hypothesis that neck muscle spindles may be especially affected in DM1. This would highlight that muscles are also crucial sensory organs, involved in the perception of joint position, muscle strength, and fatigue. Results from the present study might allow the definition of new rehabilitative programs, such as treatments through a neck strengthening (and thus stiffening) exercise program. This study, therefore, might stimulate new research hypothesis at the neurophysiologic level and possibly lead to findings generalizable from DM1 to other forms of myopathy.

Study Overview

Status

Status

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Completed

Conditions

Conditions

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Intervention / Treatment

Intervention / Treatment

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Study Type

Study Type

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Observational

Enrollment (Actual)

Enrollment

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42

Contacts and Locations

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Study Contact

Study Contact

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Study Contact Backup

Study Locations

  • Italy
    • MI
      • Milan, MI, Italy, 20121
        • Istituto Auxologico Italiano
      • Milan, MI, Italy, 20162
        • The NEuroMuscular Omnicentre (NEMO) Clinical Center

Participation Criteria

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Eligibility Criteria

Eligibility Criteria

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Ages Eligible for Study

18 years to 50 years (Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The participants will be recruited in the NeuroMuscolar Omniservice (NEMO) clinical centre, on an outpatient basis, from a physiatric referral, or from an inpatient rehabilitation unit.

Description

Inclusion Criteria:

  • Diagnosis of DM1 since at least 5 years;
  • Ability to stand erect with open eyes for at least 20 s;
  • Rivermead Mobility Index (RMI) score ≥ 10/15;
  • Visual acuity > 10/20, also with corrective lenses;
  • Mini Mental State Examination (MMSE) score ≥ 26/30;
  • ability to wittingly sign the informed consent form.

Exclusion Criteria:

  • neurological or orthopedic pathologies with impact on balance;
  • pregnancy;
  • previous orthopedic surgical intervention;
  • head or neck trauma in the 6 months preceding the study;
  • other pathological conditions which could alter balance;
  • drug therapy, underway for less than one month before the study, with impact on balance.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Healthy participants
At least 25 healthy participants aged from 18 to 50 years old. Participants will be excluded if pregnant.
Other: Healthy subjects

Participants will be tested for their foot dominance by means of the Waterloo footedness questionnaire-revised, their hand dominance by means of the Edinburgh inventory, and their eyedness Coren's Lateral Preference Inventory.

Participants will perform a cervical repositioning test. They will seat in a chair in front of a Plexiglas screen with the eye closed. The operator will guide the participant in four positions: at 30° right/left rotation and at 25° extension/flexion. The participant will be then asked to reproduce the angle. Each movement will be repeated four times in a random order. The whole sequence will be repeated by another second operator. Both the tests will be repeated after two weeks.

Head movements will be detected using an optoelectronic system using passive markers positioned on the head of the participant.
Pathologic group
At least 22 participants with diagnosis of Myotonic Dystrophy 1.
Other: Pathologic group

Clinical evaluation of the participants will be performed by means of the Myotonic Dystrophy Health Index (MDHI), the Rivermead Mobility Index (RMI), the Fall Events Questionnaire, and the Dizziness Handicap Inventory- short form (DHIsf).

Participants will perform a cervical repositioning test. Participants will seat in a chair in front of a Plexiglas screen with the eye closed. The operator will guide the participant in four positions: at 30° right/left rotation and at 25° extension/flexion. The participant will be then asked to reproduce the angle. Each movement will be repeated four times in a random order.

Head movements will be detected using an optoelectronic system using passive markers positioned on the head of the participant.

Participants will then perform test of balance in standing, using the EquiTest platform. Individuals will be requested to perform three different tasks: sensory organization test, adaptation test-upward tilt, and adaptation test-downward tilt.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
SOT score
Time Frame: Day 1
The patient's task is to maintain an upright stance during 3 20 s trials under six different conditions, including platform and visual surround 'tuned' with individual's sagittal oscillation. The SOT score will be calculated by comparing the sagittal oscillation of the body's centre of mass (COM) to the maximal sagittal oscillation. Score is averaged across the six conditions (range 0 - 100 the higher the score, the lower the oscillation).
Day 1

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Head Repositioning Accuracy, HRA
Time Frame: Day 1
The head repositioning accuracy in percentage will be computed as the joint position error (JPE) divided by the target position. The JPE will be computed as the absolute difference between the target position and the measured position.
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Istituto Auxologico Italiano

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Fondazione Serena Onlus - Centro Clinico NeMO Milano

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Luigi Tesio, MD, Full professor, Istituto Auxologico Italiano

Publications and helpful links

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General Publications

Study record dates

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Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 27, 2020

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
October 13, 2021

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 31, 2022

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 13, 2021

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 13, 2021

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 15, 2021

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
February 20, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 16, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 24C020

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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