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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

Exicure Announces First Neurological Development Program in Friedreich’s Ataxia and Expands Scientific Advisory Board

- Exicure to collaborate with Friedreich’s Ataxia Research Alliance (FARA)

- Hank Paulson, MD, PhD and Susan Perlman, MD, added to Scientific Advisory Board

CHICAGO & CAMBRIDGE, Mass.--(BUSINESS WIRE)--Dec. 16, 2019-- Exicure, Inc. (NASDAQ:XCUR), the pioneer in gene regulatory and immunotherapeutic drugs utilizing spherical nucleic acid (SNA™) technology, today announced Friedreich’s ataxia (FA) as the therapeutic indication for the company’s first neurology development program. Exicure also announced the expansion of its Scientific Advisory Board.

"Over the past year Exicure has developed extensive preclinical data supporting the development of our SNAs for neurological disorders. We’re eager to evaluate our technology for this important unmet medical need," said David Giljohann, PhD, Exicure’s chief executive officer. "We are also pleased to add the experience and team from the Friedreich’s Ataxia Research Alliance (FARA)," added Dr. Giljohann.

View the Exicure Press Release PDF Here

Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology

In this study, the authors aimed at evaluating whether tocotrienol, a phytonutrient that diffuses easily in tissues with saturated fatty layers, could complement the current treatment with idebenone, a quinone analogue with antioxidant properties. Five young Friedreich’s ataxia patients received a low-dose tocotrienol supplementation (5 mg/kg/day), while not discontinuing idebenone treatment. Several oxidative stress markers and biological parameters related to oxidative stress were evaluated at the time of initiation of treatment and 2 and 12 months post-treatment. Some oxidative stress-related parameters and some inflammation indices were altered in Friedreich’s ataxia patients taking idebenone alone and tended to be normal values following tocotrienol supplementation; likewise, a cardiac magnetic resonance study showed some improvement following one-year tocotrienol treatment. The pathway by which tocotrienol affects the Nrf2 modulation of hepcidin gene expression, a peptide involved in iron handling and in inflammatory responses, is viewed in the light of the disruption of the iron intracellular distribution and of the Nrf2 anergy characterizing Friedreich’s ataxia. This research provides a suitable model to analyze the efficacy of therapeutic strategies able to counteract the excess free radicals in Friedreich’s ataxia, and paves the way to long-term clinical studies.

Read the entire article HERE

Friedreich's Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

Currently, Friedreich's ataxia cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA. The aim of this study was to elucidate the additive value of CMR in FA-CM. Three FA cases were assessed using ECG, 24 h Holter recording, hsTNT, routine ECHO including wall dimension, valvular and ventricular function evaluation and CMR using 1.5T Ingenia system. Ventricular volumes-function, wall dimensions and fibrosis imaging using late gadolinium enhancement (LGE) was performed. All FA patients had non-specific ECG changes, almost normal 24 h Holter recording, mild hypertrophy with normal function assessed by echocardiography and increased hsTNT. However, the CMR evaluation revealed the presence of LGE >5% of LV mass, indicative of severe fibrosis. Therefore, the FA patients were re-categorized as having severe FA-CA, although their LVEF remained normal. The combination of classical diagnostic indices and CMR may reveal early asymptomatic FA-CM and motivate the early initiation of cardiac treatment. Furthermore, these indices can be also used to validate specific treatment targets in FA, potentially useful in the prevention of FA-CM.

Read the entire article HERE

Mitochondrial dysfunction in neurons in Friedreich's ataxia

Based on clinical evidence, the peripheral nervous system is affected early in Friedreich's ataxia, neuronal dysfunction progresses towards the central nervous system, and other organs (such as heart and pancreas) are affected later. However, little attention has been given to the specific aspects of mitochondria function altered by frataxin depletion in the nervous system. For years, commonly accepted views on mitochondria dysfunction in Friedreich's ataxia stemmed from studies using non-neuronal systems and may not apply to neurons, which have their own bioenergetic needs and present a unique, extensive neurite network. Moreover, the basis of the selective neuronal vulnerability, which primarily affects large sensory neurons in the dorsal root ganglia, large principal neurons in the dentate nuclei of the cerebellum, and pyramidal neurons in the cerebral cortex, remains elusive. In order to identify potential misbeliefs in the field and highlight controversies, the authors reviewed current knowledge on frataxin expression in different tissues, discussed the molecular function of frataxin, and the consequences of its deficiency for mitochondria structural and functional properties, with a focus on the nervous system.

Read the entire article HERE

Pediatric Neuromuscular Disorders

This review focuses on neuromuscular disorders, pathologies that can severely affect the quality of life as well as longevity of patients. The most common disorders include cerebral palsy and myelodysplasia. The orthopedic manifestations of these disorders can be treated operatively or nonoperatively. Both focus on the prolongation of mobility and preservation of ambulatory capacity for patients.

Read the entire article HERE

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