Resources
As the rare disease community strives to better understand CMT4JA rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to handicap, and respiratory issues with no available treatment. CMT4J is a recessive subtype of CMT caused by a variant, also referred to as a mutation, in the FIG4 gene., consider these tools and partner sites for continued learning about life with this disease.
CMT4J Clinical Trials
There is a growing body of research on Charcot-Marie-ToothThe most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease. CMT is further classified based on the genetic mutation or variant involved – for instance, CMT4A, CMT4B, etc. disease and CMT4J in particular, as well as the various FIG4The FIG4 gene is the only gene in which pathogenic variants are known to cause CMT4J. variantsA variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.” that cause it. This research is intended to fuel advances for the CMT4J patient and healthcare community.
There are a limited number of trials related to CMT4J. All current trials are listed on ClinicalTrials.gov.
Get to know the CMT4J community
CureCMT4J is an organization dedicated to developing a treatment or cure for CMT4J by generating awareness of and support for the disease.
www.curecmt4j.org
HNF’s mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.
www.hnf-cure.org
Additional Resources
Rare Diseases Clinical Research Network is a group committed to advancing medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.
www.rarediseasesnetwork.org
Global Genes is an organization that helps to build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their rare diseases.
www.globalgenes.org
The National Organization for Rare Disorders (NORD®), an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. They work together to accelerate research, raise awareness, provide valuable information and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases.
www.rarediseases.org
EveryLife Foundation is dedicated to advancing the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.
www.everylifefoundation.org
Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.
www.geneticalliance.org
CMTA supports the CMT community through devotion to support for the development of new treatments, improving quality of life for individuals, and working toward a cure for CMT.
www.cmtausa.org
CMT UK works to support those affected by CMT by offering assistance to individuals with CMT and their caretakers, supporting research and medical education for CMT, and spreading awareness to healthcare professionals and the public.
www.cmt.org.uk
The European CMT Federation is a voluntary federation of all European national organizations supporting people affected by CMT.
www.ecmtf.org
MDA combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services and educating health professionals and the public.
www.mda.org
The Mighty is a supportive health community for people facing challenges and their families.
www.themighty.com
Medical articles published about Charcot-Marie-Tooth 4J (CMT4J) can be found below:
Li, J. (1993). Charcot-Marie-Tooth Neuropathy Type 4J. Retrieved June 26, 2019, from link.
Nicholson, G., Lenk, G. M., Reddel, S. W., Grant, A. E., Towne, C. F., Ferguson, C. J., … Meisler, H. M. (2011). Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain: a journal of neurology, 134(7), 1959–1971. doi:10.1093/brain/awr148. Retrieved June 26, 2019, from link.
Orengo, J. P., Khemani, P., Day, J. W., Li, J., & Siskind, C. E. (2018). Charcot Marie Tooth disease type 4J with complex central nervous system features. Annals of Clinical and Translational Neurology, 5. doi:10.1002/acn3.525. Retrieved on June 26, 2019, from link.
Bo, H., McCollum, M., Vignesh, R., Moiseev, D., Castoro, R., Mobley, B. C., Burnette, B. W., Siskind, C., Day, J. W., Yawn, R., Feely, S., Li, Y., Yan, Q., Shy, M. E., Li, J. (2018). Myelin abnormality in CMT4J recapitulates features of acquired demyelination. Annals of Neurology, 83(4), 756-770. doi: 10.1002/ana.25198. Retrieved October 22, 2019, from link.
