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Results from a Phase 1/2 clinical study support the safety and tolerability of RT001, an investigational therapy for Friedreich’s ataxia. Patients treated with RT001 also were seen to improve in physical functioning tests. The study, “Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich’s ataxia,” was published…

Researchers found that the use of mobility devices is associated with a poorer quality of life in children with Friedreich’s ataxia (FA). The study, “Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia,” was published in the Journal of Child Neurology. Friedreich’s ataxia is a…

Inhibitors of p38 — a protein involved in regulating cell growth — show potential for use as therapeutic agents in the treatment of Friedreich’s ataxia (FA), a recent study suggests. The study, “Identification of p38 MAPK as a novel therapeutic target for Friedreich’s ataxia,” was published in the journal…

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ataxia,” was published in the European Journal of Medical Genetics. Friedreich’s ataxia is caused by mutations in the…

Using human cells, researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that causes Friedreich’s ataxia. This finding adds new knowledge about the mechanisms involved in Friedreich’s ataxia, but it also may lead to new development of disease-modifying therapies. The finding…

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and the formation of new nerve cells. The study, “Bone marrow transplantation stimulates neural repair in Friedreich’s ataxia mice,” appeared…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Researchers modified two new classes of drugs, known as duplex RNAs and antisense oligonucleotides, targeted against the Frataxin (FXN) gene, which had a therapeutic effect in cells from patients with Friedreich’s ataxia. The study titled, “Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat,” was…