Charcot-Marie-Tooth DiseaseNCT02979145
Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
An observational study of Charcot-Marie-Tooth Disease, run by Sydney Children's Hospitals Network at 4 sites in 3 countries.
Trial summary
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT). Read more about this study
- Who is it for?
- Ages Up to 4 yearsHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease
- How many people
- 200 participants
- Where
- 4 sitesin 3 countries
- Study dates
- Oct 2016to Dec 2017
- 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 Up to 4 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Patients who are 4 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMTInfant Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.
Who may be able to join
- Patient is ≤4 years of age
- Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
- Patient has known or probable inherited neuropathy
- Patient participates in the INC Natural History Study (INC 6601)
- Participant is ≤4 years of age
- Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
- Participant does NOT have an inherited neuropathy as determined by the investigator
- Participant is an unaffected friend or family member of a patient with CMT (patient does not have to be included in the study)
Who cannot join
- Patient has a known condition of acquired neuropathy including toxic (e.g. medication related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular dystrophy.
- Patient has a severe general medical condition, as determined by the site Principal Investigator.
- Patient has known normal nerve conductions of upper and lower limbs. This will be considered as exclusion criteria because it documents that the child does not have a large-fibre neuropathy. However, patients will not be required to have nerve conduction studies (NCS) or electromyography (EMG).
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
United States2 sites, 2 recruiting
- Recruiting
University of Iowa Health Care
Iowa City, Iowa, 52242
Shawna Feely, MS, CGC, 319-353-8400, Shawna-Feely@uiowa.edu
- Not yet recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104-1771
Timothy Estilow, OT, ESTILOW@email.chop.edu
Australia1 site, 1 recruiting
- Recruiting
The Children's Hospital at Westmead
Sydney, New South Wales, 2145
Melissa Mandarakas, MPhty, +61 2 98451904, melissa.mandarakas@sydney.edu.au
Italy1 site, 1 recruiting
- Recruiting
C. Besta Neurological Institute
Milan, 20133
Isabella Moroni, +39-02 2394 3001, isabella.moroni@istituto-besta.it
About this study
Official title: Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Read the detailed description
Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current research suggests that treatment to slow disease progression may be most effective if introduced early in a patient's life before muscle weakness and sensation loss develop, as it may be easier to slow disease progression than to reverse disability that is already in place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. It is the goal of this study to develop and validate the CMT Infant Scale (CMTInfS) to meet this need.
- Conditions
- Charcot-Marie-Tooth Disease
- Being tested
- No intervention involved
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention involvedOther
| Study group | Role | What they receive |
|---|---|---|
| Patients with CMT | Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms. Receives: Other: No intervention involved | |
| Controls | Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria. Receives: Other: No intervention involved |
What is being measured
The primary outcome is the main question the study is designed to answer.
CMT Infant Scale Part 1
The CMT Infant Scale physical assessment
Measured: 1 year
The CMT Infant Scale Part 2
The CMT Infant Scale lower limb and gross motor items
Measured: 1 year
The CMT Infant Scale Part 3
The CMT Infant Scale upper limb and fine motor items
Measured: 1 year
Secondary outcomes (1)
Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study
The sections of the CMT Infant Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all infant patients every 6 months to one year.
Measured: 6 months - 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2016 (estimated)
- Study startOct 2016
- Primary completionDec 2017 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth DiseaseStudies 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 only
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sydney Children's Hospitals Network
- Sponsor type
- University, hospital or other
- Collaborators
- University of Iowa, Children's Hospital of Philadelphia, University of Pennsylvania, University of Rochester, National Hospital for Neurology and Neurosurgery, Dubowitz Neuromuscular Centre, University of Miami, Carlo Besta Neurological Institute, Johns Hopkins University, Vanderbilt University, University of Washington, Nemours Children's Hospital, National Institutes of Health (NIH), Stanford University, Cedars-Sinai Medical Center, Harvard/Massachusetts General Hospital, University of Michigan, University of Minnesota, University of Utah, University of Connecticut, Universiteit Antwerpen
- Responsible party
- Principal investigator, Joshua Burns, Sydney Children's Hospitals Network
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02979145
- Sponsor's protocol ID
- 6611
- Status last verified
- Nov 2016
- First submitted
- 29 Nov 2016
- Last updated
- 1 Dec 2016
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT
- ClinicalTrials.gov ID
- NCT02979145
- Acronym / sponsor ID
- 6611
- Conditions
- Charcot-Marie-Tooth Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Sydney Children's Hospitals NetworkUniversity, hospital or other
- Collaborators
- University of Iowa, Children's Hospital of Philadelphia, University of Pennsylvania, University of Rochester, National Hospital for Neurology and Neurosurgery, Dubowitz Neuromuscular Centre, University of Miami, Carlo Besta Neurological Institute, Johns Hopkins University, Vanderbilt University, University of Washington, Nemours Children's Hospital, National Institutes of Health (NIH), Stanford University, Cedars-Sinai Medical Center, Harvard/Massachusetts General Hospital, University of Michigan, University of Minnesota, University of Utah, University of Connecticut, Universiteit Antwerpen
- Study start
- Oct 2016
- Primary completion
- Dec 2017 (estimated)
- First posted
- 1 Dec 2016 (estimated)
- 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.
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Detailed description
Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current research suggests that treatment to slow disease progression may be most effective if introduced early in a patient's life before muscle weakness and sensation loss develop, as it may be easier to slow disease progression than to reverse disability that is already in place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. It is the goal of this study to develop and validate the CMT Infant Scale (CMTInfS) to meet this need.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with CMT | – | Other: No intervention involvedTwo groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms. |
| Controls | – | Other: No intervention involvedHealthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria. |
Who may qualify
- Ages
- Up to 4 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Patients who are 4 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMTInfant Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.
Key inclusion criteria (8 listed)
- Patient is ≤4 years of age
- Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form.
- Patient has known or probable inherited neuropathy
- Patient participates in the INC Natural History Study (INC 6601)
- Participant is ≤4 years of age
Key exclusion criteria (3 listed)
- Patient has a known condition of acquired neuropathy including toxic (e.g. medication related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular dystrophy.
- Patient has a severe general medical condition, as determined by the site Principal Investigator.
- Patient has known normal nerve conductions of upper and lower limbs. This will be considered as exclusion criteria because it documents that the child does not have a large-fibre neuropathy. However, patients will not be required to have nerve conduction studies (NCS) or electromyography (EMG).
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 |
|---|---|---|
| No intervention involved | Other | Controls, Patients with CMT |
Primary outcome
CMT Infant Scale Part 1
Time frame: 1 year
The CMT Infant Scale physical assessment
The CMT Infant Scale Part 2
Time frame: 1 year
The CMT Infant Scale lower limb and gross motor items
The CMT Infant Scale Part 3
Time frame: 1 year
The CMT Infant Scale upper limb and fine motor items
1 secondary outcome
Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study
Time frame: 6 months - 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2016.
- 6611: Charcot-Marie-Tooth disease Infant Scale Recruitment WebsiteLink provided by the sponsor.
Related trials for Charcot-Marie-Tooth Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingPhase 2
Study on Thiamine Supplementation to REduce braiN Injury Associated With Chronic Alcohol Use in Outpatients With Alcohol Use Disorder
Alcohol Use Disorder
RecruitingObservational study
Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP
Charcot-Marie-Tooth, CMT1A
Recruiting
High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
Amyotrophic Lateral Sclerosis, Chronic Inflammatory Demyelinating Neuropathy
Recruiting
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
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.
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease, run by Sydney Children's Hospitals Network at 4 sites in 3 countries.
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 8 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 1 Dec 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Australia, Italy. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CMT Infant Scale Part 1 (time frame: 1 year). The study lists 3 primary outcomes in all. 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 1 Dec 2016.