Resources

As the rare disease community strives to better understand CMT4J, 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-Tooth disease and CMT4J in particular, as well as the various FIG4 variants 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

Additional Resources

Charcot-Marie-Tooth Association

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

Charcot-Marie-Tooth UK

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

European CMT Federation

The European CMT Federation is a voluntary federation of all European national organizations supporting people affected by CMT.

www.ecmtf.org

Muscular Dystrophy Association

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

Rare Diseases Network

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

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

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

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

Eurordis

EURORDIS-Rare Diseases Europe is a non-profit alliance of 864 rare disease patient organizations from 70 countries that work together to improve the lives of the 30 million people living with rare disease in Europe.

https://www.eurordis.org/

Genetic Alliance

Genetic Alliance is an advocacy organization that engages individuals, families, and communities to transform health.

www.geneticalliance.org

Child Neurology Foundation

The Child Neurology Foundation connects partners from all areas of the child neurology community so those navigating the journey of disease diagnosis, management, and care have the ongoing support of those dedicated to treatments and cures.

https://www.childneurologyfoundation.org/

Alliance for Regenerative Medicine

The Alliance for Regenerative Medicine is an international community of small and large companies, non-profit research institutions, patient organizations, and other sector stakeholders dedicated to realizing the promise of regenerative medicine for patients around the world.

https://alliancerm.org/

ARM Foundation for Cell & Gene Medicine

The ARM Foundation for Cell and Gene Medicine educates, engages, and empowers patients, caregivers, industry leaders, and other stakeholders to help advance the science and benefits of gene and cell therapy.

https://www.thearmfoundation.org/

The Mighty

The Mighty is a supportive health community for people facing challenges and their families.

www.themighty.com

National Alliance for Caregiving

Established in 1996, the National Alliance for Caregiving is a non-profit coalition of national organizations focusing on advancing family caregiving through research, innovation, and advocacy. The Alliance conducts research, does policy analysis, develops national best-practice programs, and works to increase public awareness of family caregiving issues. Recognizing that family caregivers provide important societal and financial contributions toward maintaining the well-being of those they care for, the Alliance supports a network of more than 80 state and local caregiving coalitions and serves as Founder and Secretariat for the International Alliance of Carer Organizations (IACO).

https://www.caregiving.org/

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.