A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients

A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients. ClinicalTrials.gov

Sponsor: Azienda Policlinico Umberto I

The primary objective of this study is to investigate whether the treatment with IFN gamma can induce significant accumulation of frataxin in FRDA patients, a possibility suggested by pre-clinical evidence in an animal model of the disease.

Detailed Description:
This is a Phase 2 clinical trial. A total of 10 FRDA patients will be recruited All subjects will be treated with a dose of 100-150-200-micrograms of IFN gamma 1b (Imukin®) subcutaneously, with an interval of 14 days, for a total of 3 injections.

Anesthetic Management on a Patient with Friedreich’s Ataxia

Anesthetic Management on a Patient with Friedreich’s Ataxia. Ozgul U, Erdogan MA, Aydogan MS, Korkmaz MF, Nakir H, Durmus M.; Med-Science. 2013; 2(4): 928-34. doi:10.5455/medscience.2013.02.8083

Key words: Friedreich’s ataxia, Anesthesia, spinal fusion

Role of Frataxin and Mitochondrial Dysfunction in Friedreich's Ataxia

Giovanni Manfredi, MD, PhD, Professor of Neurology and Neuroscience, Weill Medical College of Cornell University

Role of Frataxin and Mitochondrial Dysfunction in Friedreich's Ataxia

Giovanni Manfredi, MD, PhD, Professor of Neurology and Neuroscience, Weill Medical College of Cornell University

Occurrence of adverse events in chronic intrathecal baclofen infusion: a one-year follow-up study of 158 adults

Occurrence of adverse events in chronic intrathecal baclofen infusion: a one-year follow-up study of 158 adults. Léo Borrini, Djamel Bensmail, Jean-Baptiste Thiebaut, Caroline Hugeron, Célia Rech, Claire Jourdan; Archives of Physical Medicine and Rehabilitation, Available online 6 January 2014. http://dx.doi.org/10.1016/j.apmr.2013.12.019

The objective is to assess the frequency and types of adverse events (AEs) related to intrathecal baclofen (ITB) therapy in adults, and associated risk factors.

Keywords: Baclofen, Implantable pump, Spasticity, Adverse event

MITOCHONDRIA: Mitochondrial OXPHOS (dys) function ex-vivo - the use of primary fibroblasts

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Is summarized in this review the usefulness of fibroblasts in culture to verify and study the pathomechanism of new mitochondrial diseases and to evaluate the efficacy of individual treatment options.
The rationale for screening vitamins is that they frequently function as substrates and co-enzymes or as antioxidants and electron donors.

The kinetics of folding of frataxin

The kinetics of folding of frataxin. Daniela Bonetti, Angelo Toto, Rajanish Giri, Angela Morrone, Domenico Sanfelice, Annalisa Pastore, PA Temussi, Stefano Gianni and M Brunori; hys. Chem. Chem. Phys., 2014, Accepted Manuscript DOI: 10.1039/C3CP54055C

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia; Delatycki, M. B., Tai, G., Corben, L., Yiu, E. M., Evans-Galea, M. V., Stephenson, S. E.M., Gurrin, L., Allen, K. J., Lynch, D. and Lockhart, P. J.; Mov. Disord.. doi: 10.1002/mds.25795

Keywords: Friedreich ataxia; HFE; hemochromatosis; genetic modifier; disease severity

Molecular and clinical investigation of Iranian patients with friedreich ataxia.

Molecular and clinical investigation of Iranian patients with friedreich ataxia.. Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E., Iran Biomed J. 2014 Jan;18(1):28-33.

BIOMARKERS IN RARE NEUROMUSCULAR DISEASES

BIOMARKERS IN RARE NEUROMUSCULAR DISEASES . Chiara Scotton, Chiara Passarelli, Marcella Neri, Alessandra Ferlini; Experimental Cell Research, Available online 31 December 2013.

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