PATENT: DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA . Bibliographic data: US2014128455 (A1) ― 2014-05-08

Inventor(s): ZAIN-LUQMAN RULA [SE]; BERGQUIST HELEN [SE]; GOOD LIAM [GB] +

Shining a light in the black box of orphan drug pricing

Shining a light in the black box of orphan drug pricing.
Eline Picavet, Thomas Morel, David Cassiman and Steven Simoens; Orphanet Journal of Rare Diseases 2014, 9:62 doi:10.1186/1750-1172-9-62

This study has shown that prices of orphan drugs are influenced by factors such as the availability of an alternative drug treatment, repurposing, etc. Current debate about the affordability of orphan drugs highlights the need for more transparency in orphan drug price setting.

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Mitochondrial dysfunction affecting visual pathways

Mitochondrial dysfunction affecting visual pathways. S. Leruez, P. Amati-Bonneau, C. Verny, P. Reynier, V. Procaccio, D. Bonneau, D. Milea, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.009.

Keywords: Hereditary optic neuropathy; Leber's hereditary optic neuropathy; Autosomal dominant optic atrophy; Wolfram syndrome; Toxic mitochondrial optic neuropathies; Neuropathie optique héréditaire; Neuropathie optique héréditaire de Leber; Atrophie optique dominante; Syndrome de Wolfram; Neuropathies optiques mitochondriales toxiques; Friedreich's ataxia

Perspectives of drug-based neuroprotection targeting mitochondria

Perspectives of drug-based neuroprotection targeting mitochondria, V. Procaccio, C. Bris, J.M. Chao de la Barca, F. Oca, A. Chevrollier, P. Amati-Bonneau, D. Bonneau, P. Reynier, , Revue Neurologique, Available online 1 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.005.

Keywords: Mitochondria; Mitochondrial diseases; Neurodegenerative disorders; Pharmacological neuroprotection; Mitochondrie; Maladies mitochondriales; Maladies neurodégénératives; Neuroprotection pharmacologique; ADAlzheimer's disease; AICAR5-aminoimidazole-4-carboxamide ribonucleoside; ALSAmyotrophic lateral sclerosis; AMPAdenosine monophosphate; ATPAdenosine triphosphate; cAMPCyclic AMP; CCCPCarbonylcyanide m-chlorophenylhydrazone; CNSCentral nervous system; ERREstrogen-related receptors; ETCElectron transport chain; FAD/FADHFlavin adenine nucleotide; GDAP1Ganglioside-induced differentiation-associated protein 1; HDHuntington disease; KTPKinetin triphosphate; LHONLeber hereditary optic neuropathy; MAPKMitogen-activated protein kinases; MELASMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRFMyoclonic epilepsy and ragged red fibers; MFN1/MFN2Mitofusin; MnSODManganese superoxide dismutase; mtDNAMitochondrial genome or DNA; mtPTPMitochondrial permeability transition pore; mTORMammalian target of rapamycin; NAD/NADHNicotinamide adenine dinucleotide; NARPNeurogenic muscle weakness, ataxia, and retinitis pigmentosa; nDNANuclear genome or DNA; NMDAAcide N-methyl-D-aspartic; NOSNitric oxide synthase; NRF1/NRF2Nuclear respiratory factors; OPA1Optic atrophy 1; OXPHOSOxidative phosphorylation; PARLPresenilins-associated rhomboid-like protein; PDParkinson's disease; PGC-1-αPPAR gamma coactivator 1-alpha; PINK1PTEN-induced putative kinase1; PKAProtein kinase A; PPARPeroxisome proliferators-activated receptors; PRCPGC1-related coactivator; CoQCoenzyme Q; RCRespiratory chain; ROSReactive oxygen species; RXRRetinoid X receptors; SIRTSirtuins; TFAMMitochondrial transcription factor A; TFB2/TFB2Transcription factors B1 and B2

Genetics of mitochondrial respiratory chain deficiencies

Genetics of mitochondrial respiratory chain deficiencies, A. Rötig, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2013.11.006.

Keywords: Genetic diseases; Mitochondria; Respiratory chain; Mitochondrie; Chaîne respiratoire; Maladies génétiques

The brain is hypothermic in patients with mitochondrial diseases

The brain is hypothermic in patients with mitochondrial diseases. Mario Rango, Andrea Arighi, Cristiana Bonifati, Roberto Del Bo, Giacomo Comi and Nereo Bresolin; Journal of Cerebral Blood Flow & Metabolism (2014) 34, 915–920; doi:10.1038/jcbfm.2014.38; published online 12 March 2014

Keywords: activation; brain metabolism; brain temperature; mitochondrial diseases; recovery; visual stimulation

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome . Groh M, Lufino MMP, Wade-Martins R, Gromak N; PLoS Genet 10(5): e1004318. doi:10.1371/journal.pgen.1004318

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Nicotinamide in Friedreich's ataxia: useful or not?

Nicotinamide in Friedreich's ataxia: useful or not?. The Lancet, Available online 30 April 2014, ISSN 0140-6736, http://dx.doi.org/10.1016/S0140-6736(14)60573-0.

Comment

Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment

Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment Ataxia-UK Press release: 1st May 2014

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Vincenzo Libri MD,Cihangir Yandim PhD,Stavros Athanasopoulos MD,Naomi Loyse PhD,Theona Natisvili MSc,Pui Pik Law MSc,Ping Kei Chan PhD,Tariq Mohammad MBBS,Marta Mauri MSc,Kin Tung Tam BSc,James Leiper PhD,Sophie Piper MSc,Aravind Ramesh BM BCh,Michael H Parkinson MBBS,Les Huson PhD,Paola Giunti MD,Prof Richard Festenstein FRCP. The Lancet - 1 May 2014; DOI: 10.1016/S0140-6736(14)60382-2