Pharnext has enrolled the first patient in Europe for its Phase 3 clinical trial of PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A). The international PREMIER trial (NCT04762758) is already underway in the United States, where the first patient was dosed earlier this year.
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
The CMT Research Foundation is teaming up with the University of Illinois Chicago (UIC) to investigate a potential treatment for X-linked Charcot-Marie-Tooth type 1 disease (CMTX1), the second most common type of CMT. Together, they aim to test whether inosine, an anti-inflammatory molecule, might act in ways that…
Mutations in the GARS protein — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — enhanced the activity of the enzyme SIRT2, and led to motor deficits and other alterations in fruit flies, a study has found. In turn, blocking…
Scientist Jun Li has won a $246,172 grant to develop new MRI biomarkers to assess disease progression and response to treatment in people with Charcot-Marie-Tooth disease type 1A (CMT1A). The grant, from the National Center for Advancing Translational Sciences of the National Institutes of Health, will fund a project…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
The CMT Research Foundation has teamed up with AcuraStem and scientist Alessandra Bolino, PhD, to test potential new therapies for Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe form of the disease with early onset. CMT4B1 is caused by mutations in the gene MTMR2, which is involved in the…
Scientists in China examined the relationship between genetic mutations in the MORC2 gene and the various disease characteristics in people with the rare Charcot-Marie-Tooth disease subtype 2Z (CMT2Z). Physicians should consider their study’s findings when working to diagnose unresolved cases showing…
InFlectis BioScience and the University of Chicago have entered into an agreement that grants InFlectis exclusive patent rights to use a family of small molecules as potential treatments for demyelinating disorders that include Charcot-Marie-Tooth disease (CMT). Specifically, the license covers the use of IFB-088 and IFB-048,…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
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