AKU Society

Cambridge, United Kingdom

AKU Society

Cambridge, United Kingdom
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News Article | May 18, 2017
Site: www.prlog.org

FRAXA Will Receive Award for Its Dedication to Repurposing Treatments for a Known Cause of Autism -- Cures Within Reach, the leading global nonprofit focused on repurposing research as a fast track to saving patient lives, will honor FRAXA Research Foundation (FRAXA) at the 5th Annual Global Health Repurposing Awards (GHRA). FRAXA will receive the 2017 Golan Christie Taglia Patient Impact Philanthropy Award for efforts to find treatments for a rare disease called fragile X syndrome. Dr. Michael Tranfaglia, FRAXA's co-founder, will be accepting this award on his organization's behalf. He will be presented with the award on June 27, 2017 at the Radisson Blu Aqua Hotel in Chicago, IL.Fragile X syndrome is a rare disease that is a known cause of autism worldwide. FRAXA was founded in 1994 after three new parents' sons were born with fragile X syndrome. Since its founding, FRAXA's goal has been to accelerate the pace of fragile X research. FRAXA also knows that repurposing treatments are a key part of the research equation: of the $25 million FRAXA has funded in biomedical research since its inception, $3 million was earmarked for more cost-effective repurposing research. In fact, Dr. Tranfaglia's son's fragile X is treated with a repurposed therapy."Cures Within Reach is pleased to recognize FRAXA," noted GHRA Co-Chair Nicole Boice, CEO and Founder of Global Genes, a leading global rare disease patient advocacy organization. "Given how prevalent fragile X is as a rare disease, research for this disorder has been drastically underfunded. The commitment FRAXA has had in dedicating funding to repurposing research creates promise for many patients. For this and many other reasons, we are honored to award this organization for their innovation and forward thinking related to drug re-development."The rare disease focus at this year's GHRA commemorates Cures Within Reach's first repurposing success, which found that the drug sirolimus created a life-saving treatment for a rare disease called autoimmune lymphoproliferative syndrome. The four Global Health Repurposing Awards that will be presented will honor leaders in business, science, medicine and philanthropy. The awardees' achievements have made a difference in patients' lives through repurposing research that finds new uses for existing drugs, devices and nutraceuticals."I am honored to receive the 2017 Golan Christie Taglia Patient Impact Philanthropy Award on FRAXA's behalf," Dr. Tranfaglia, FRAXA co-founder, remarked. "This award will continue to raise awareness of the key role repurposing treatments can play in treating disorders like fragile X and other rare diseases."The Golan Christie Taglia Patient Impact Philanthropy Award, recognizes an individual, group or organization that has created positive patient impact by advocating for patients or contributing to the growth of repurposing research through financial, operational or professional philanthropic support. Previous awardees include: Dr. Nicolas Sireau, with Professor Lakshminarayan Ranganath, AKU Society; Lori Melichar representing the Robert Wood Johnson Foundation; George and Judy Goldman, Goldman Philanthropic Partnerships;and Golan and Christie LLP. The award was named in honor of its first awardee, Golan Christie Taglia LLP, in gratitude for its many years of financial and in kind support for Cures Within Reach.To attend the 2017 GHRA and honor all awardees, visit http://www.cureswithinreach.org/ ghra-2017 ABOUT CURES WITHIN REACHCures Within Reach ( http://www.cureswithinreach.org ) works to catalyze repurposing research to quickly and affordably improve patient lives. We accomplish this by connecting funders with researchers to jumpstart repurposing research clinical trials, by providing collaboration tools so repurposing stakeholders can work together more easily, and by pioneering alternative finance engines and incentives for repurposing research. Cures Within Reach's repurposing research projects have generated over a dozen "new" treatments making patient impact through off-label use in clinical practice or through a commercialization track. Cures Within Reach currently has 24 repurposing research projects either funded or approved for funding. Visit us at www.cureswithinreach.org or follow us via Twitter @CuresWReach, LinkedIn.com/company/cures-within-reach, YouTube.com/cureswithinreach or Facebook.com/CuresWithinReach.ABOUT CUREACCELERATOR™Cures Within Reach built CureAccelerator (http://www.cureaccelerator.org)to provide a global collaboration space and marketplace for repurposing research that can deliver effective solutions to unsolved diseases. The CureAccelerator platform was built with a grant from the Robert Wood Johnson Foundation, to provide a platform in which drugs, devices and nutraceuticals approved for one or more human diseases can be repurposed to create "new" treatments in other diseases. CureAccelerator has over 1,000 users who have proposed 120 projects, of which more than 20 have received funding and are moving towards patient impact.ABOUT FRAXA RESEARCH FOUNDATIONFounded in 1994, FRAXA is a nonprofit, tax-exempt organization based in Newburyport, Mass. Committed to finding a cure for fragile X, FRAXA has funded more than $25 million in biomedical research, yielding discoveries that are changing the lives of families coping with fragile X. FRAXA is one of the most efficient and effective charities in the world, with management and general expenses under 4 percent and research expenditures at 86 percent. Three Nobel Laureates sit on its volunteer Scientific Advisory Board.


Ranganath L.R.,University of Liverpool | Milan A.M.,University of Liverpool | Hughes A.T.,University of Liverpool | Dutton J.J.,University of Liverpool | And 31 more authors.
Annals of the Rheumatic Diseases | Year: 2016

Background: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU. Nitisinone decreases homogentisic acid (HGA) in AKU but the dose-response relationship has not been previously studied. Methods: Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) was an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study. The primary objective was to investigate the effect of different doses of nitisinone once daily on 24-h urinary HGA excretion (u-HGA24) in patients with AKU after 4 weeks of treatment. Forty patients were randomised into five groups of eight patients each, with groups receiving no treatment or 1 mg, 2 mg, 4 mg and 8 mg of nitisinone. Findings: A clear dose-response relationship was observed between nitisinone and the urinary excretion of HGA. At 4 weeks, the adjusted geometric mean u-HGA24 was 31.53 mmol, 3.26 mmol, 1.44 mmol, 0.57 mmol and 0.15 mmol for the no treatment or 1 mg, 2 mg, 4 mg and 8 mg doses, respectively. For the most efficacious dose, 8 mg daily, this corresponds to a mean reduction of u-HGA24 of 98.8% compared with baseline. An increase in tyrosine levels was seen at all doses but the dose-response relationship was less clear than the effect on HGA. Despite tyrosinaemia, there were no safety concerns and no serious adverse events were reported over the 4 weeks of nitisinone therapy. Conclusions: In this study in patients with AKU, nitisinone therapy decreased urinary HGA excretion to low levels in a dose-dependent manner and was well tolerated within the studied dose range.


Nemethova M.,Slovak Academy of Sciences | Radvanszky J.,Slovak Academy of Sciences | Kadasi L.,Slovak Academy of Sciences | Kadasi L.,Comenius University | And 31 more authors.
European Journal of Human Genetics | Year: 2016

Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the first study in DevelopAKUre, and of 59 other AKU patients sent to our laboratory for molecular diagnostics. We identified 12 novel DNA variants: one was identified in patients from Brazil (c.557T>A), Slovakia (c.500C>T) and France (c.440T>C), three in patients from India (c.469+6T>C, c.650-85A>G, c.158G>A), and six in patients from Italy (c.742A>G, c.614G>A, c.1057A>C, c.752G>A, c.119A>C, c.926G>T). Thus, the total number of potential AKU-causing variants found in 380 patients reported in the HGD mutation database is now 129. Using mCSM and DUET, computational approaches based on the protein 3D structure, the novel missense variants are predicted to affect the activity of the enzyme by three mechanisms: decrease of stability of individual protomers, disruption of protomer-protomer interactions or modification of residues in the region of the active site. We also present an overview of AKU in Italy, where so far about 60 AKU cases are known and DNA analysis has been reported for 34 of them. In this rather small group, 26 different HGD variants affecting function were described, indicating rather high heterogeneity. Twelve of these variants seem to be specific for Italy. © 2016 Macmillan Publishers Limited.


PubMed | Emek Medical Center, University of Liverpool, Nordic Bioscience, Aix - Marseille University and 17 more.
Type: Journal Article | Journal: European journal of human genetics : EJHG | Year: 2015

Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the first study in DevelopAKUre, and of 59 other AKU patients sent to our laboratory for molecular diagnostics. We identified 12 novel DNA variants: one was identified in patients from Brazil (c.557T>A), Slovakia (c.500C>T) and France (c.440T>C), three in patients from India (c.469+6T>C, c.650-85A>G, c.158G>A), and six in patients from Italy (c.742A>G, c.614G>A, c.1057A>C, c.752G>A, c.119A>C, c.926G>T). Thus, the total number of potential AKU-causing variants found in 380 patients reported in the HGD mutation database is now 129. Using mCSM and DUET, computational approaches based on the protein 3D structure, the novel missense variants are predicted to affect the activity of the enzyme by three mechanisms: decrease of stability of individual protomers, disruption of protomer-protomer interactions or modification of residues in the region of the active site. We also present an overview of AKU in Italy, where so far about 60 AKU cases are known and DNA analysis has been reported for 34 of them. In this rather small group, 26 different HGD variants affecting function were described, indicating rather high heterogeneity. Twelve of these variants seem to be specific for Italy.


Hall A.K.,Cudos | Sireau N.,AKU Society | Raffai F.,Findacure
Expert Opinion on Orphan Drugs | Year: 2014

There is a large unmet need for helping rare disease patient groups and Findacure aims to empower these groups to become effective campaigners for change. Through its scientific meetings, Findacure also aims to gain the support of the scientific community in recognizing the importance of 'fundamental diseases' (conditions that manifest themselves as extreme and rare genetic disorders that offer a unique opportunity to better understand other diseases, including many common ones) and help to create a receptive research environment. Since it may often be commercially unattractive to develop treatments for many fundamental diseases, Findacure helps facilitate patient groups to themselves drive the development of treatments for fundamental diseases, using multi-stakeholder collaborative models. © 2014 Informa UK, Ltd.


Lock E.,Liverpool John Moores University | Ranganath L.R.,University of Liverpool | Timmis O.,AKU Society
Current Rheumatology Reports | Year: 2014

Nitisinone 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione (NTBC), an effective herbicide, is the licensed treatment for the human condition, hereditary tyrosinaemia type 1 (HT-1). Its mode of action interrupts tyrosine metabolism through inhibition of 4-hydroxyphenylpyruvate dioxygenase (HPPD). Nitisinone is a remarkable safe drug to use with few side effects reported. Therefore, we propose that it should be investigated as a potential treatment for other disorders of tyrosine metabolism. These include alkaptonuria (AKU), a rare disease resulting is severe, early-onset osteoarthritis. We present a case study from the disease, and attempts to use the drug both off-label and in clinical research through the DevelopAKUre consortium. © 2014, Springer Science+Business Media New York.

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