NCT06343558

Brief Summary

Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of \< 5 out of 10'000 and 100'000 people, respectively. Besides these, there are undiagnosed neurological diseases: neurological conditions without a diagnosis after completing a full diagnostic examination. Rare, very rare, and undiagnosed neurological diseases are complicated and progressive and often cause variegated motor signs, impairments, and syndromes. Balance and gait are frequently affected in these conditions, already at the clinical examination. These balance and gait impairments limit activities and cause an increased risk of falling. Falls can eventually result in injuries, even severe. There are only a few studies about these diseases, likely because of their rarity. Hence, the clinical presentation and the course of rare and very rare diseases are poorly known or even unknown. Essential information for these conditions' diagnosis, prognosis, treatment and rehabilitation is missing. MaNeNeND is an observational study underway at the Fondazione IRCCS Istituto Neurologico "Carlo Besta" (Milano) aimed at detailing the clinical and biological features of very rare and undiagnosed neurological diseases. Research questions:

  1. 1.Do patients with rare (Ra), very rare (V) and undiagnosed (U) neurological diseases suffer a balance and gait impairment?
  2. 2.Is there a correlation between the clinical and instrumental severity of the balance and gait impairment in RaVU neurological diseases?
  3. 3.Are instrumental measures more sensitive in detecting balance and gait impairments in patients affected by a RaVU neurological disease than the clinical measures?
  4. 4.Do the balance and gait impairments in RaVU neurological diseases worsen in time?

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
12mo left

Started May 2023

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress75%
May 2023May 2027

Study Start

First participant enrolled

May 30, 2023

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

March 8, 2024

Completed
25 days until next milestone

First Posted

Study publicly available on registry

April 2, 2024

Completed
3.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2027

Last Updated

August 3, 2025

Status Verified

July 1, 2025

Enrollment Period

3.9 years

First QC Date

March 8, 2024

Last Update Submit

August 1, 2025

Conditions

Multiple SclerosisParkinson DiseasePeripheral NeuropathyRare DiseasesHealthyHealthy Aging

Keywords

Rare neurological diseasesVery rare neurological diseasesUndiagnosed neurological diseasesUpright stanceBalanceRisk of fallingGait analysisPosturography

Outcome Measures

Primary Outcomes (14)

  • Balance (Mini-BESTest)

    Mini Balance Evaluation Systems Test (Mini-BESTest, an ordinal score of balance)

    At enrollment

  • Balance (Timed Up and Go test)

    Timed Up and Go test instrumented with inertial sensors

    At enrollment

  • Gait speed

    10 m walking test

    At enrollment

  • Gait analysis - kinematic - stride length

    Stride length, right step length and left step length

    At enrollment

  • Gait analysis - kinematic - duration

    Stride duration, right and left step duration

    At enrollment

  • Gait analysis - kinematic - width of the base of support

    Width of the base of support

    At enrollment

  • Gait analysis - kinematic - dorsal ankle angle

    Dorsal ankle angle

    At enrollment

  • Gait analysis - dynamic - reaction force

    Anterior-posterior, mediolateral and vertical reaction force

    At enrollment

  • Gait analysis - dynamic - ankle power

    Right and left ankle power

    At enrollment

  • Gait analysis - dynamic - energy

    Potential and kinetic energy of the body centre of mass

    At enrollment

  • Posturography - static - centre of pressure position

    Centre of pressure position while standing

    At enrollment

  • Posturography - static - centre of mass position

    Centre of mass position while standing

    At enrollment

  • Posturography - dynamic - centre of pressure position

    Centre of pressure position after base of support perturbations

    At enrollment

  • Posturography - dynamic - centre of mass position

    Centre of mass position after base of support perturbations

    At enrollment

Study Arms (5)

Healthy controls

Other: Questionnaires, clinical scales and instrumental tests

Parkinson's disease patients

Other: Questionnaires, clinical scales and instrumental tests

Multiple sclerosis patients

Other: Questionnaires, clinical scales and instrumental tests

Peripheral neuropathies of the lower limbs

Other: Questionnaires, clinical scales and instrumental tests

Rare and ultrarare neurological diseases

Other: Questionnaires, clinical scales and instrumental tests

Interventions

Questionnaires, clinical scales and instrumental testsOTHER

Questionnaires, clinical scales and instrumental tests to collect a wide range of balance and gait measures.

Healthy controlsMultiple sclerosis patientsParkinson's disease patientsPeripheral neuropathies of the lower limbsRare and ultrarare neurological diseases

Eligibility Criteria

Age18 Years - 80 Years
Sexall(Gender-based eligibility)
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with a balance and gait impairment secondary to multiple sclerosis, Parkinson's disease, peripheral neuropathy of the lower limbs, a rare, ultrarare or undiagnosed neurological disease. A group of age-matched controls will also be recruited.

You may qualify if:

  • Multiple sclerosis, Parkinson's disease, peripheral neuropathy of the lower limbs or rare or ultrarare neurological disease (e.g. la Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome - CANVAS, ORPHAcode: 504476; Wilson's disease, ORPHAcode: 905)
  • undiagnosed neurological disease, i.e. a neurological disease that remains unknown after a full diagnostic assessment;
  • age \> 18 years;
  • ability to stand upright with no assistance and no assistive device for \> 30 seconds;
  • ability to walk without assistance and with no assistive device for \> 50 m;
  • ability to give their informed consent.

You may not qualify if:

  • pregnancy or breastfeeding
  • any other medical conditions affecting by itself balance and gait (e.g. lower limb amputation, hemiparesis due to a stroke)
  • major orthopaedic surgery (e.g. hip or knee replacement).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

IRCCS Istituto Auxologico Italiano

Milan, Milan, Italy

RECRUITING

IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

ACTIVE NOT RECRUITING

Related Publications (9)

  • Reinhard C, Bachoud-Levi AC, Baumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krageloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Perez Duenas B, Renna Linton L, Schols L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H. The European Reference Network for Rare Neurological Diseases. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.

    PMID: 33519696BACKGROUND

  • The Lancet Neurology. Rare neurological diseases: a united approach is needed. Lancet Neurol. 2011 Feb;10(2):109. doi: 10.1016/S1474-4422(11)70001-1. No abstract available.

    PMID: 21256450BACKGROUND

  • Ganz DA, Bao Y, Shekelle PG, Rubenstein LZ. Will my patient fall? JAMA. 2007 Jan 3;297(1):77-86. doi: 10.1001/jama.297.1.77.

    PMID: 17200478BACKGROUND

  • Vieira ER, Palmer RC, Chaves PH. Prevention of falls in older people living in the community. BMJ. 2016 Apr 28;353:i1419. doi: 10.1136/bmj.i1419. No abstract available.

    PMID: 27125497BACKGROUND

  • Caronni A, Sterpi I, Antoniotti P, Aristidou E, Nicolaci F, Picardi M, Pintavalle G, Redaelli V, Achille G, Sciume L, Corbo M. Criterion validity of the instrumented Timed Up and Go test: A partial least square regression study. Gait Posture. 2018 Mar;61:287-293. doi: 10.1016/j.gaitpost.2018.01.015. Epub 2018 Jan 31.

    PMID: 29413799BACKGROUND

  • Picardi M, Redaelli V, Antoniotti P, Pintavalle G, Aristidou E, Sterpi I, Meloni M, Corbo M, Caronni A. Turning and sit-to-walk measures from the instrumented Timed Up and Go test return valid and responsive measures of dynamic balance in Parkinson's disease. Clin Biomech (Bristol). 2020 Dec;80:105177. doi: 10.1016/j.clinbiomech.2020.105177. Epub 2020 Sep 18.

    PMID: 32979787BACKGROUND

  • Caronni A, Gervasoni E, Ferrarin M, Anastasi D, Brichetto G, Confalonieri P, Di Giovanni R, Prosperini L, Tacchino A, Solaro C, Rovaris M, Cattaneo D, Carpinella I. Local Dynamic Stability of Gait in People With Early Multiple Sclerosis and No-to-Mild Neurological Impairment. IEEE Trans Neural Syst Rehabil Eng. 2020 Jun;28(6):1389-1396. doi: 10.1109/TNSRE.2020.2991636. Epub 2020 Apr 30.

    PMID: 32356754BACKGROUND

  • Scarano S, Sansone VA, Ferrari Aggradi CR, Carraro E, Tesio L, Amadei M, Rota V, Zanolini A, Caronni A. Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit. Front Hum Neurosci. 2022 Jul 28;16:925299. doi: 10.3389/fnhum.2022.925299. eCollection 2022.

    PMID: 35967003BACKGROUND

  • Scarano S, Rota V, Tesio L, Perucca L, Robecchi Majnardi A, Caronni A. Balance Impairment in Fahr's Disease: Mixed Signs of Parkinsonism and Cerebellar Disorder. A Case Study. Front Hum Neurosci. 2022 Mar 9;16:832170. doi: 10.3389/fnhum.2022.832170. eCollection 2022.

    PMID: 35355583BACKGROUND

MeSH Terms

Conditions

Multiple SclerosisParkinson DiseasePeripheral Nervous System DiseasesRare Diseases

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Demyelinating Autoimmune Diseases, CNSAutoimmune Diseases of the Nervous SystemNervous System DiseasesDemyelinating DiseasesAutoimmune DiseasesImmune System DiseasesParkinsonian DisordersBasal Ganglia DiseasesBrain DiseasesCentral Nervous System DiseasesMovement DisordersSynucleinopathiesNeurodegenerative DiseasesNeuromuscular DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Data CollectionEpidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Target Duration
1 Year
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 8, 2024

First Posted

April 2, 2024

Study Start

May 30, 2023

Primary Completion (Estimated)

May 1, 2027

Study Completion (Estimated)

May 1, 2027

Last Updated

August 3, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

The database will be made available upon request on Zenodo.

Locations

IT(2)