Distal Hereditary Motor Neuropathy, Type IIGAIT-dHMNNCT04193228
Muscle Structure, Function and Gait in dHMN
An observational study of Distal Hereditary Motor Neuropathy, Type II and Distal Hereditary Motor Neuropathy, Type V, run by University College London Hospitals at 1 site in United Kingdom.
Trial summary
Distal Hereditary Motor Neuropathy (dHMN) is a rare inherited neuromuscular disorder. It is characterised by distal weakness. The condition usually manifests in the second decade of life and progresses slowly. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V, Distal Hereditary Motor Neuronopathy Type I
- What is being tested?
- Carbon Fibre Ankle Foot Orthosis and Exercise
- Type of treatment
- Medical device, Lifestyle or therapy programme
- How many people
- 11 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 2 Nov 2021to 27 Nov 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: People with clinically confirmed distal hereditary motor neuropathy
Who may be able to join
- Adult patients aged 18 or above.
- Clinical and electrophysiological features of dHMN.
- Participant is able to give informed consent and has signed the informed consent form.
- Patients who are able to complete calf and thigh myometry and 3D gait analysis.
- Patients who have no contraindication to MRI scanning.
- Participant for objective 3, at least one of the major muscle groups of the ankle, dorsiflexors or plantarflexors, will score over 4/5 on the MRC scale.
Show all 11Show fewer
- Adult aged 18 or above.
- Participants who have no known neuromuscular disease.
- Participant is able to give informed consent and has signed the informed consent form.
- Participants who are able to complete calf and thigh myometry and 3D gait analysis.
- Participants who have no contraindication to MRI scanning
Who cannot join
- Known neuromuscular disorder other than dHMN.
- Lower limbs surgery planned during the study period or performed within the preceding 12 months.
- Bilateral arthrodesis.
- The participant has a contraindication for MRI scan.
- Females who are pregnant, planning pregnancy or breastfeeding.
- The participant has a contraindication for MRI.
Show all 10Show fewer
- Participants who cannot complete calf and thigh myometry and 3D gait analysis.
- Participant has a history, signs or symptoms of a neuromuscular disorder.
- Females who are pregnant, planning pregnancy or breastfeeding.
- -
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
Queen Square centre for Neuromuscular Diseases
London, Greater London, WC1N 3BG
About this study
Official title: Exploring Muscle Structure, Function and Gait Patterns in People With Distal Hereditary Motor Neuropathy: Natural History and the Effect of Rehabilitation Interventions
Distal Hereditary Motor Neuropathy (dHMN) is a rare inherited neuromuscular disorder. It is characterised by distal weakness. The condition usually manifests in the second decade of life and progresses slowly. Though patients usually have a normal lifespan it is a disabling condition and most eventually need aids to walk. In order to improve walking quality in patient with dHMN, research is needed to understand the impairments that lead to altered gait patterns, and to develop interventions to correct walking gait conservatively.
In this proposed trial our goal is to explore the relationships between muscle structure, function and gait patterns for people with Distal Hereditary Motor Neuropathy. Over 12 months, muscle changes in dHMN are going to be observed in terms of structure and function using MRI, myometry and 3D motion analysis. In addition, the effect of a 16 weeks exercises program on muscle structure and function in dHMN is going to be measured by the same observational methods. To address walking gait directly in dHMN, gait patterns with and without wearing carbon fibre ankle foot orthoses (AFO)will be measured using 3D motion analysis.
Read the detailed description
Objectives: The primary objective (objective 1) is to:
- explore the natural history of muscle structure and function in Distal Hereditary Motor Neuropathy (dHMN) over one year. The secondary objectives are:
- to ascertain relationships between intramuscular fat fraction (measured by MRI), muscle volume, isokinetic muscle strength (measured by dynamometry) and moments/power generation (measured by 3D gait analysis) (objective 2).
- to explore the effect of bilateral carbon fibre ankle foot orthoses (AFO) on the kinetics and kinematics of gait of people with DHMN (measured by 3D gait analysis) (objective 3).
- to explore the effect of resistance training of the ankle muscles in people with ankle muscle strength over grade 4 MRC scale on muscle structure, function, and gait patterns (objective 4).
Type of trial: A prospective cohort study in adult patients with dHMN with a single UK site.
Trial design and methods: This study (participants with dHMN and control participants) is proposed to take place over 3 years in one site in the UK (NHNN). Participants with dHMN aged over 18 for potential enrolment in the study will be identified through existing inherited neuropathy cohort clinics at NHNN and healthy control participants will be invited. If they show interest in participating, they will be given the relevant Patient Information Sheets and Informed Consent Forms.
Objective 1\&2: dHMN participants will undergo the following measures: MRI scans of the legs, isokinetic strength and power measures of the lower limb using the HUMAC Norm dynamometer,3D motion analysis to capture kinetic and kinematic data of complete gait cycles. Clinical assessments will be undertaken to measure: gait speed and endurance, joint range of motion, foot posture, pain and sensory impairment. For direct comparison of gait deviations, twenty age and gender matched health controls will also be recruited to undergo the same measures. Scans, dynamometry and clinical measures will be repeated after one year to explore the natural history of the disease.
Objective 3: The dHMN participants recruited for objective 1 will undergo additional gait analysis: wearing just shoes (control condition), wearing their own prescribed orthoses (where appropriate), and wearing bilateral carbon fibre AFOs. The order of wearing or not wearing the AFOs will be randomised to account for learning and/or fatigue effects.
Objective 4: The participants from objective 1 will be invited to participate in the strength training study and will be screened to see if they meet the inclusion criteria. The primary criteria will be that at least one of the major muscle groups of the ankle, dorsiflexors or plantarflexors, will score over 4/5 on the MRC scale. There might be a need for recruiting more participants if less than 10 from objective 1 participants met the inclusion criteria. Up to 15 participants will be prescribed a home based, resistance training trial for 16 weeks, supervised by the PhD candidate through weekly phone calls and monthly monitoring through an app, and progression visits. Response to training will be analysed by: MRI scans, myometry, and 3D motion analysis.
Trial duration per participant: 16 months Estimated total trial duration: 36 months Planned trial sites: The National Hospital for Neurology and Neurosurgery (NHNN), UCLH NHS Foundation Trust.
Total number of participants planned: 20 participants with dHMN and 20 matching control participants will be recruited for objective 1. Participates with dHMN will be invited to participate for objective 2 and 3.
Main inclusion/exclusion criteria: The main disease to be investigated is dHMN. The key inclusion criteria are: adult patients aged 18 or above with clinically proven dHMN; patients who are able to complete calf and thigh myometry, able to walk for 10 minutes without walking aids, and have no contraindication to MRI scanning. For objective 4, at least one of the major muscle groups of the ankle, dorsiflexors or plantarflexors, will score over 4/5 on the MRC scale. The key exclusion criteria are: patients having undergone lower limbs surgery in the year prior to the trial enrolment or planned to have lower limb surgery in the 16 months of the study; bilateral arthrodesis; participants having another medical condition which precludes them having an MRI scan; patients with a known diagnosis of another neurological disease. Control participants must have no known neuromuscular disease, have no contraindication to MRI scanning, be able to complete calf and thigh myometry and 3D gait analysis.
- Conditions
- Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V, Distal Hereditary Motor Neuronopathy Type I, Distal Hereditary Motor Neuronopathy Type VI
- Being tested
- Carbon Fibre Ankle Foot Orthosis, Exercise
- Medical subject headings
- Distal Hereditary Motor Neuropathy, Type II, Neuronopathy, Distal Hereditary Motor, Type V, Neuronopathy, Distal Hereditary Motor, Type I, Spinal muscular atrophy with respiratory distress 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Carbon Fibre Ankle Foot OrthosisDevice
Also called Ankle Foot Orthosis
Off teh shelf carbon fibre ankle foot orthoses worn bilaterally
ExerciseBehavioural
Ankle muscle strength training
| Study group | Role | What they receive |
|---|---|---|
| People with distal hereditary motor neuropathy | This is a single arm, feasibility study Receives: Device: Carbon Fibre Ankle Foot Orthosis; Behavioral: Exercise |
What is being measured
The primary outcome is the main question the study is designed to answer.
Muscle fat fraction
Percentage fat fraction measured by the 3-point Dixon method
Measured: 16 weeks
Secondary outcomes (2)
3D gait analysis
Kinematic measures: pelvis, hip, knee and ankle angular displacement during one gait cycle Kinetic: plantar flexor moment (Nm) and power generation (W) at pre-swing
Measured: 16 weeks
Isokinetic muscle function
Isokinetic torque for lower limb flexors and extensors (Nm)
Measured: 16 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Dec 2019
- Study start2 Nov 2021
- Primary completion1 Nov 2023
- Study completion27 Nov 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Distal Hereditary Motor Neuropathy, Type IIStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- University College London Hospitals
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gita Ramdharry, University College London Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04193228
- Sponsor's protocol ID
- pending
- Acronym
- GAIT-dHMN
- Status last verified
- Nov 2023
- First submitted
- 23 Oct 2019
- Last updated
- 28 Nov 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Data can be shared on request
Study at a glance
From the registry record, last updated by the sponsor on 28 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring Muscle Structure, Function and Gait Patterns in People With Distal Hereditary Motor Neuropathy: Natural History and the Effect of Rehabilitation Interventions
- ClinicalTrials.gov ID
- NCT04193228
- Acronym / sponsor ID
- GAIT-dHMN / pending
- Conditions
- Distal Hereditary Motor Neuropathy, Type II, Distal Hereditary Motor Neuropathy, Type V, Distal Hereditary Motor Neuronopathy Type I, Distal Hereditary Motor Neuronopathy Type VI
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- University College London HospitalsUniversity, hospital or other
- Study start
- 2 Nov 2021 (actual)
- Primary completion
- 1 Nov 2023 (actual)
- Study completion
- 27 Nov 2023 (actual)
- First posted
- 10 Dec 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Distal Hereditary Motor Neuropathy (dHMN) is a rare inherited neuromuscular disorder. It is characterised by distal weakness. The condition usually manifests in the second decade of life and progresses slowly. Though patients usually have a normal lifespan it is a disabling condition and most eventually need aids to walk. In order to improve walking quality in patient with dHMN, research is needed to understand the impairments that lead to altered gait patterns, and to develop interventions to correct walking gait conservatively.
In this proposed trial our goal is to explore the relationships between muscle structure, function and gait patterns for people with Distal Hereditary Motor Neuropathy. Over 12 months, muscle changes in dHMN are going to be observed in terms of structure and function using MRI, myometry and 3D motion analysis. In addition, the effect of a 16 weeks exercises program on muscle structure and function in dHMN is going to be measured by the same observational methods. To address walking gait directly in dHMN, gait patterns with and without wearing carbon fibre ankle foot orthoses (AFO)will be measured using 3D motion analysis.
Detailed description
Objectives: The primary objective (objective 1) is to:
- explore the natural history of muscle structure and function in Distal Hereditary Motor Neuropathy (dHMN) over one year. The secondary objectives are:
- to ascertain relationships between intramuscular fat fraction (measured by MRI), muscle volume, isokinetic muscle strength (measured by dynamometry) and moments/power generation (measured by 3D gait analysis) (objective 2).
- to explore the effect of bilateral carbon fibre ankle foot orthoses (AFO) on the kinetics and kinematics of gait of people with DHMN (measured by 3D gait analysis) (objective 3).
- to explore the effect of resistance training of the ankle muscles in people with ankle muscle strength over grade 4 MRC scale on muscle structure, function, and gait patterns (objective 4).
Type of trial: A prospective cohort study in adult patients with dHMN with a single UK site.
Trial design and methods: This study (participants with dHMN and control participants) is proposed to take place over 3 years in one site in the UK (NHNN). Participants with dHMN aged over 18 for potential enrolment in the study will be identified through existing inherited neuropathy cohort clinics at NHNN and healthy control participants will be invited. If they show interest in participating, they will be given the relevant Patient Information Sheets and Informed Consent Forms.
Objective 1\&2: dHMN participants will undergo the following measures: MRI scans of the legs, isokinetic strength and power measures of the lower limb using the HUMAC Norm dynamometer,3D motion analysis to capture kinetic and kinematic data of complete gait cycles. Clinical assessments will be undertaken to measure: gait speed and endurance, joint range of motion, foot posture, pain and sensory impairment. For direct comparison of gait deviations, twenty age and gender matched health controls will also be recruited to undergo the same measures. Scans, dynamometry and clinical measures will be repeated after one year to explore the natural history of the disease.
Objective 3: The dHMN participants recruited for objective 1 will undergo additional gait analysis: wearing just shoes (control condition), wearing their own prescribed orthoses (where appropriate), and wearing bilateral carbon fibre AFOs. The order of wearing or not wearing the AFOs will be randomised to account for learning and/or fatigue effects.
Objective 4: The participants from objective 1 will be invited to participate in the strength training study and will be screened to see if they meet the inclusion criteria. The primary criteria will be that at least one of the major muscle groups of the ankle, dorsiflexors or plantarflexors, will score over 4/5 on the MRC scale. There might be a need for recruiting more participants if less than 10 from objective 1 participants met the inclusion criteria. Up to 15 participants will be prescribed a home based, resistance training trial for 16 weeks, supervised by the PhD candidate through weekly phone calls and monthly monitoring through an app, and progression visits. Response to training will be analysed by: MRI scans, myometry, and 3D motion analysis.
Trial duration per participant: 16 months Estimated total trial duration: 36 months Planned trial sites: The National Hospital for Neurology and Neurosurgery (NHNN), UCLH NHS Foundation Trust.
Total number of participants planned: 20 participants with dHMN and 20 matching control participants will be recruited for objective 1. Participates with dHMN will be invited to participate for objective 2 and 3.
Main inclusion/exclusion criteria: The main disease to be investigated is dHMN. The key inclusion criteria are: adult patients aged 18 or above with clinically proven dHMN; patients who are able to complete calf and thigh myometry, able to walk for 10 minutes without walking aids, and have no contraindication to MRI scanning. For objective 4, at least one of the major muscle groups of the ankle, dorsiflexors or plantarflexors, will score over 4/5 on the MRC scale. The key exclusion criteria are: patients having undergone lower limbs surgery in the year prior to the trial enrolment or planned to have lower limb surgery in the 16 months of the study; bilateral arthrodesis; participants having another medical condition which precludes them having an MRI scan; patients with a known diagnosis of another neurological disease. Control participants must have no known neuromuscular disease, have no contraindication to MRI scanning, be able to complete calf and thigh myometry and 3D gait analysis.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| People with distal hereditary motor neuropathy | – | Device: Carbon Fibre Ankle Foot Orthosis, Behavioral: ExerciseThis is a single arm, feasibility study |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- People with clinically confirmed distal hereditary motor neuropathy
Key inclusion criteria (11 listed)
- Adult patients aged 18 or above.
- Clinical and electrophysiological features of dHMN.
- Participant is able to give informed consent and has signed the informed consent form.
- Patients who are able to complete calf and thigh myometry and 3D gait analysis.
- Patients who have no contraindication to MRI scanning.
Key exclusion criteria (10 listed)
- Known neuromuscular disorder other than dHMN.
- Lower limbs surgery planned during the study period or performed within the preceding 12 months.
- Bilateral arthrodesis.
- The participant has a contraindication for MRI scan.
- Females who are pregnant, planning pregnancy or breastfeeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Carbon Fibre Ankle Foot OrthosisAlso: Ankle Foot OrthosisOff teh shelf carbon fibre ankle foot orthoses worn bilaterally | Device | People with distal hereditary motor neuropathy |
| ExerciseAnkle muscle strength training | Behavioural | People with distal hereditary motor neuropathy |
Primary outcome
Muscle fat fraction
Time frame: 16 weeks
Percentage fat fraction measured by the 3-point Dixon method
2 secondary outcomes
3D gait analysis
Time frame: 16 weeks
Isokinetic muscle function
Time frame: 16 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Nov 2023.
- Individual participant dataSharing planned: Undecided. Data can be shared on request
Related trials for Distal Hereditary Motor Neuropathy, Type II
RecruitingObservational study
UK SMA Patient Registry
Spinal Muscular Atrophy, SMA
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Distal Hereditary Motor Neuropathy, Type II and Distal Hereditary Motor Neuropathy, Type V, run by University College London Hospitals at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Muscle fat fraction (time frame: 16 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Nov 2023.