Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| University of Iowa | OTHER |
| Children's Hospital of Philadelphia | OTHER |
| University of Pennsylvania | OTHER |
| University of Rochester |
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).
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
| |
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention involved | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| CMT Infant Scale Part 1 | The CMT Infant Scale physical assessment | 1 year |
| The CMT Infant Scale Part 2 | The CMT Infant Scale lower limb and gross motor items | 1 year |
| The CMT Infant Scale Part 3 | The CMT Infant Scale upper limb and fine motor items | 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 6 months - 1 year |
Not provided
Inclusion Criteria (patients with CMT):
Inclusion Criteria (controls):
Exclusion Criteria (patients with CMT):
Not provided
Not provided
Not provided
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.
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Iowa Health Care | Recruiting | Iowa City | Iowa | 52242 | United States |
Not provided
| Label | URL |
|---|---|
| 6611: Charcot-Marie-Tooth disease Infant Scale Recruitment Website | View source |
Not provided
Not provided
| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
Not provided
Not provided
| OTHER |
| National Hospital of Neurology and Neurosurgery | UNKNOWN |
| Dubowitz Neuromuscular Centre | OTHER |
| University of Miami | OTHER |
| Carlo Besta Neurological Institute | OTHER |
| Johns Hopkins University | OTHER |
| Vanderbilt University | OTHER |
| University of Washington | OTHER |
| Nemours Children's Hospital | OTHER |
| National Institutes of Health (NIH) | NIH |
| Stanford University | OTHER |
| Cedars-Sinai Medical Center | OTHER |
| Harvard/Massachusetts General Hospital | UNKNOWN |
| University of Michigan | OTHER |
| University of Minnesota | OTHER |
| University of Utah | OTHER |
| University of Connecticut | OTHER |
| Universiteit Antwerpen | OTHER |
Not provided
Not provided
Not provided
| Children's Hospital of Philadelphia | Not yet recruiting | Philadelphia | Pennsylvania | 19104-1771 | United States |
|
| The Children's Hospital at Westmead | Recruiting | Sydney | New South Wales | 2145 | Australia |
|
| C. Besta Neurological Institute | Recruiting | Milan | 20133 | Italy |
|
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |