The Charcot-Marie-Tooth Association (CMTA), through its strategic alliance with the Inherited Neuropathy Consortium (INC), is proud to share this important opportunity for families living with Charcot-Marie-Tooth disease (CMT). This observational study, led by INC, aims to develop and validate the Charcot-Marie-Tooth Infant Scale (CMTInfS) to assess disease severity in infants and toddlers.
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 assessments have been developed for adults (CMT Neuropathy Score (CMTNS)) and for children 3 years of age and older (CMT Pediatric Scale (CMTPedS)). However, no CMT-specific clinical outcome assessment 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 to meet this need.
About the Study
This study involves 100 infants with CMT and 100 without, aged 0-4 years, to validate a new outcome assessment tool, the CMT Infant Scale. Participants with CMT will have two evaluations over one year, while those without CMT will have one assessment. These visits may coincide with regular clinic checkups at participating sites.
During each visit:
- The child will undergo a physical examination using the CMTInfS, assessing gross motor skills (e.g., rolling, sitting, walking) and fine motor skills (e.g., block building, drawing).
- Parents will provide information about their infant’s developmental milestones and medical history.
Who Can Participate?
Children with and without an inherited neuropathy may be eligible for this study.
- A child who has been diagnosed with a known inherited neuropathy or probable inherited neuropathy (no normal nerve conductions of upper and lower limbs) may be eligible to participate in this study if:
- The child is 4 years of age or younger
- The child is also enrolled in the INC Natural History Study (INC 6601)
A child who has not been diagnosed with an inherited neuropathy may be eligible to participate in this study if:
- The child is 4 years of age or younger
- The child is a friend or family member of a patient with CMT
Participating Locations
Assessments will be conducted at the following CMTA Centers of Excellence:
- Connecticut Children’s Medical Center
- Nemours Children’s Health System Orlando
- University of Iowa
- University of Rochester
How to Get Involved
To learn more about this study and how to participate, visit INC’s Website.
CMTA-INC Alliance’s Role in Advancing Research
As the global leader in driving transformative progress in CMT research, CMTA, through its alliance with INC, is committed to advancing patient-centered research that delivers meaningful outcomes for individuals and families living with CMT. This study underscores the power of collaboration between researchers, clinicians, and the patient community.
Register with Patients as Partners in Research Today
Not yet registered with Patients as Partners in Research but wish to be informed about more opportunities like the INC Study 6611? Click the button below to register today!
Registering today ensures you will be the first to hear when INC announces new study locations and that you are updated on all the latest news and developments in CMT research. Registration is free and secure, and all who have CMT are invited to register.
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Published on: December 19, 2024