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| ID | Type | Description | Link |
|---|---|---|---|
| 1U54NS065712-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
| Muscular Dystrophy Association | OTHER |
| University of Rochester | OTHER |
| Children's Hospital of Philadelphia |
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The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pediatric patients | All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests. |
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| Measure | Description | Time Frame |
|---|---|---|
| CMT Peds Scale Part 1: Symptoms | The CMT Peds Scale Symptoms include foot and hand symptoms. | 1 year |
| CMT Peds Score Part 2: Foot and Ankle Involvement | Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking. | 1 year |
| CMT Peds Scale Part 3: Hand dexterity | Hand dexterity involves hand dexterity testing and the nine-hole peg test. | 1 year |
| CMT Peds Scale Part 4: Hand strength | Hand strength includes grip strength, thumb-index pinch, and three point pinch. | 1 year |
| CMT Peds Scale Part 5: Foot Strength | Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion. | 1 year |
| CMT Peds Score Part 6: Sensation | Sensation includes pinprick and vibration sensations. | 1 year |
| CMT Peds Scale Part 7: Balance | Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2). | 1 year |
| CMT Peds Scale Part 8: Motor Function |
| Measure | Description | Time Frame |
|---|---|---|
| Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study | The sections of the CMT Peds Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all pediatric patients every 6 months to one year. | 6 months to 1 year |
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Inclusion Criteria:
All patients MUST be seen in person at one of the participating centers for enrollment in this study.
Exclusion Criteria:
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Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.
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| Name | Affiliation | Role |
|---|---|---|
| Michael E Shy, MD | University of Iowa | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Stanford University | Palo Alto | California | 94305 | United States | ||
| University of Connecticut/Connecticut Children's Medical Center |
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| Label | URL |
|---|---|
| Inherited Neuropathy Consortium Website | View source |
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De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP.
(For Observational/Longitudinal/Natural History/Epidemiology studies): For the current grant cycle, available data will be released to the repository and will become available to the scientific community one year after publication of planned analyses, or after a period of 5 years from the date when the data were collected, whichever comes first.
For the current grant cycle, once de-identified data is posted on dbGaP, a summary of the study is posted and individual participant data is accessed via a request through dbGaP.
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| OTHER |
| University College London Hospitals | OTHER |
| Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | OTHER |
| Sydney Children's Hospitals Network | OTHER |
| Nemours Children's Clinic | OTHER |
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Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
| 1 year |
| Hartford |
| Connecticut |
| 06106 |
| United States |
| Nemours Children's Clinic | Orlando | Florida | 32827 | United States |
| University of Iowa | Iowa City | Iowa | 52242 | United States |
| University of Michigan | Ann Arbor | Michigan | 48109 | United States |
| University of Rochester | Rochester | New York | 14642 | United States |
| University of North Carolina | Chapel Hill | North Carolina | 27514 | United States |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| Seattle Children's Hospital | Seattle | Washington | 98105 | United States |
| Children's Hospital of Westmead | Sydney | New South Wales | 2145 | Australia |
| The Hospital for Sick Children | Toronto | Ontario | M5G 1X8 | Canada |
| C. Fondazione IRCCS Istituto Neurologico Carlo Besta | Milan | Italy |
| National Hospital of Neurology and Neurosurgery | London | England | WC1N 3BG | United Kingdom |
| Dubowitz Neuromuscular Centre | London | UK | United Kingdom |
| 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 |
| 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 |
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