Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02979145|
Recruitment Status : Unknown
Verified November 2016 by Joshua Burns, Sydney Children's Hospitals Network.
Recruitment status was: Recruiting
First Posted : December 1, 2016
Last Update Posted : December 1, 2016
|Condition or disease||Intervention/treatment|
|Charcot-Marie-Tooth Disease||Other: No intervention involved|
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT|
|Study Start Date :||October 2016|
|Estimated Primary Completion Date :||December 2017|
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.
Other: No intervention involved
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.
Other: No intervention involved
- 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
- Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study [ Time Frame: 6 months - 1 year ]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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02979145
|United States, Iowa|
|University of Iowa Health Care||Recruiting|
|Iowa City, Iowa, United States, 52242|
|Contact: Shawna Feely, MS, CGC 319-353-8400 Shawna-Feely@uiowa.edu|
|United States, Pennsylvania|
|Children's Hospital of Philadelphia||Not yet recruiting|
|Philadelphia, Pennsylvania, United States, 19104-1771|
|Contact: Timothy Estilow, OT ESTILOW@email.chop.edu|
|Australia, New South Wales|
|The Children's Hospital at Westmead||Recruiting|
|Sydney, New South Wales, Australia, 2145|
|Contact: Melissa Mandarakas, MPhty +61 2 98451904 email@example.com|
|C. Besta Neurological Institute||Recruiting|
|Milan, Italy, 20133|
|Contact: Isabella Moroni +39-02 2394 3001 firstname.lastname@example.org|