NCT04712422: CABLAMYD

Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1

Completed Last updated 20 February 2024

What this trial tests

trial testing Healthy subjects in Myotonic Dystrophy 1 in 42 participants. Completed in 31 December 2022.

Timeline

27 October 2020

Primary endpoint
13 October 2021

31 December 2022

Quick facts

Lead sponsor	Istituto Auxologico Italiano
Status	Completed
Study type	OBSERVATIONAL
Enrollment	42
Start date	27 October 2020
Primary completion	13 October 2021
Estimated completion	31 December 2022
Sites	2 locations across Italy

Drugs / interventions tested

• Healthy subjects — full drug profile →
• Pathologic group

Conditions studied

• Myotonic Dystrophy 1 — all drugs for Myotonic Dystrophy 1 →

Sponsor

Istituto Auxologico Italiano — full company profile →

Who can join

Adults 18 to 50, any sex, with Myotonic Dystrophy 1. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Cervical Proprioception Assessed through Targeted Head Repositioning: Validation of a Clinical Test Based on Optoelectronic Measures.
   Cerina V, Tesio L, Malloggi C, Rota V, et al · · 2023 · cited 6× · PMID 37190569 · DOI 10.3390/brainsci13040604
2. Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit.
   Scarano S, Sansone VA, Ferrari Aggradi CR, Carraro E, et al · · 2022 · cited 6× · PMID 35967003 · DOI 10.3389/fnhum.2022.925299
3. In Myotonic Dystrophy Type 1 Head Repositioning Errors Suggest Impaired Cervical Proprioception.
   Scarano S, Caronni A, Carraro E, Ferrari Aggradi CR, et al · · 2024 · PMID 39200827 · DOI 10.3390/jcm13164685