There are researchers, scientists, academic centers, pharmaceutical companies, and advocacy organizations working today to improve the understanding of A 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. for a more hopeful tomorrow. Because CMT4J is rare, much of the information currently available comes from the experiences shared by the individuals living with CMT4J and from molecular biology research on the A 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.” in the The FIG4 gene is the only gene in which pathogenic variants are known to cause CMT4J. gene that lead to reduced function of the FIG4 A protein responsible for speeding the rate of chemical reaction in the cell of the living organism. Enzymes support a wide range of functions in an organism, as they spark chemical reactions. Enzymes work with, or interact with, substrates (the underlying surface or substance). When reacted together, the enzyme and substrate result in a new product or molecule that then separates from the original enzyme and goes on to create new reactions in the cell. and ultimately lead to CMT4J. Research in mice and a There are two types of natural history studies: prospective and retrospective. A natural history study examines a group of people who have a specific medical condition or disease or are at risk of developing one. A natural history is non-interventional and collects health information in order to understand how the medical condition or disease develops and how to possibly treat it. No treatment or investigational product is given. In a prospective study, this data collection is forward-looking and is done over time in the future. In a retrospective study, researchers review and examine factors related to an outcome in the past by looking back on past exposures and medical events. are underway.
How You Can Help the Medical Community
Better Understand CMT4J
Enrollment for a CMT4J Natural History Study is Underway
A natural history study is an important step to advance understanding of a disease. A natural history study for CMT4J is currently enrolling patients. Information on the Natural History Study of Charcot-Marie-Tooth 4J can be found here.
For more information about the natural history study, please contact:
What is a natural history study?
Why is a CMT4J natural history study important?
The Commitment of Neurogene to CMT4J
In addition to sponsoring this educational website, Neurogene Inc. is a biotech company committed to developing life-changing medicines for patients and families affected by rare, devastating neurological diseases.
Neurogene is partnering with researchers and clinicians to gain a greater understanding of CMT4J in an effort to treat the disease effectively. The latest partnering research can be found here.
A clinical study entails research involving humans with the intended goal of strengthening medical knowledge. There are two types of clinical studies: non-interventional and clinical trials. Natural history studies are non-interventional, which means that there are no therapeutic interventions. In clinical trials, participants help researchers evaluate the effectiveness, safety, and side effects of investigational therapies that correlate with the disease’s development that may have the possibility of treating a disease.
Studies in CMT4J are registered on ClinicalTrials.gov, a website that provides access to information on publicly and privately supported human clinical (treatment) studies and natural history (non-interventional) studies on global diseases and conditions. Information on the Natural History Study of Charcot-Marie-Tooth 4J can be found here.
Searching “CMT4J” in the search bar on ClinicalTrials.gov will result in a list of upcoming trials that are not yet recruiting, trials that are currently enrolling, and trials that have concluded, including any published data resulting from completed studies.