Author Archives: Alice Melão

Phase 2 Trial of Potential Oral Therapy, MIN-102, Starting in Spain

Minoryx Therapeutics announced it will soon launch a Phase 2 trial in Spain to evaluate its lead therapeutic candidate, MIN-102, in patients with Friedreich’s ataxia. The study (2018-004405-64), named FRAMES, was approved by the Spanish Agency of Medicines and Medical Devices (AEMPS) and is expected to initiate patient…

Iron-induced Cell Death May Play Key Role in FA, Study Suggests

Iron-induced cell death may contribute to the progression of Friedreich’s ataxia, a study in human and mice cells shows. Inhibition of this degenerative mechanism may represent a new therapeutic strategy for people affected by this rare disease, researchers suggest. The study, “Ferroptosis as a novel therapeutic target…

PTC Expanding Gene Therapy Portfolio by Buying Agilis Biotherapeutics

PTC Therapeutics announced it will acquire Agilis Biotherapeutics, a company focused on the development of gene therapies targeting rare diseases that affect the central nervous system (CNS). The acquisition will represent an expansion of PTC Therapeutics’ portfolio by including Agilis’ lead product candidate AGIL-AADC, for aromatic L-amino…

Transplanting HSPCs Restored Mitochondria Function in FA Mice Model

Transplanting hematopoietic stem and progenitor cells (HSPCs) restored muscle strength and motility function in a mouse model of Friedreich’s ataxia, according to a report published in Science Translational Medicine. Researchers at University of California San Diego School of Medicine showed that HSPCs could restore the activity of mitochondria in…

Voyager Therapeutics’ Potential Gene Therapy Program for FA Moving Toward Pre-Clinical Stage

Voager Therapeutics has announced that its Friedreich’s ataxia program, VY-FXN01, is taking steps to initiate preclinical tests of its safety and effectiveness, the company expects to achieve in a two-year period the needed requirements to proceed to treatment testing in Friedreich’s ataxia patients. “Voyager’s exceptional performance and accomplishments during…

Identifying Cerebellum’s Structural Changes May Serve as Biomarker for Ataxia, Study Finds

Researchers at Italy’s IRCCS Santa Lucia Foundation have found that cerebellar atrophy can affect brain structures related to emotions, thinking and memory, which may in part explain ataxia symptoms. Their results suggest that identifying structural alterations in the cerebellum via imaging can help detect cerebellar degeneration and ataxia. These observations in their study, “Impact of…

Inflammatory Bowel Disease, Growth Hormone Deficiency More Likely in Patients With FA, Study Shows

Patients with Friedreich ataxia (FA) are more likely to develop inflammatory bowel disease and growth hormone deficiency than those without FA, concludes a recent study. Researchers believe that these associations, which may be coincidental or a result of disease interaction or shared genetic features, warrant further research. The study, “Comorbid Medical Conditions…

Recognizing Abnormal Movements in Kids Important for Early Diagnosis, Treatment of Ataxia Syndromes

Recognizing atypical involuntary movements in childhood autosomal recessive ataxia syndromes can lead to early diagnosis and may allow for more effective treatment of the symptoms, according to a recent review of emerging data. Autosomal recessive cerebellar ataxias (ARCA) are a diverse group of rare, usually inherited conditions that typically appear before age…