Clinical trial NCT06324877 - References

Ataxia Telangiectasia — Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside

Citation(s)

•   Aguado J, Chaggar HK, Gomez-Inclan C, Shaker MR, Leeson HC, Mackay-Sim A, Wolvetang EJ
  Inhibition of the cGAS-STING pathway ameliorates the premature senescence hallmarks of Ataxia-Telangiectasia brain organoids. Aging Cell. 2021 Sep;20(9):e13468. doi: 10.1111/acel.13468. Epub 2021 Aug 30.
•   Airhart SE, Shireman LM, Risler LJ, Anderson GD, Nagana Gowda GA, Raftery D, Tian R, Shen DD, O'Brien KD
  An open-label, non-randomized study of the pharmacokinetics of the nutritional supplement nicotinamide riboside (NR) and its effects on blood NAD+ levels in healthy volunteers. PLoS One. 2017 Dec 6;12(12):e0186459. doi: 10.1371/journal.pone.0186459. eCollection 2017.
•   Chen P, Peng C, Luff J, Spring K, Watters D, Bottle S, Furuya S, Lavin MF
  Oxidative stress is responsible for deficient survival and dendritogenesis in purkinje neurons from ataxia-telangiectasia mutated mutant mice. J Neurosci. 2003 Dec 10;23(36):11453-60. doi: 10.1523/JNEUROSCI.23-36-11453.2003.
•   Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M
  Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial. Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5.
•   Fang EF, Kassahun H, Croteau DL, Scheibye-Knudsen M, Marosi K, Lu H, Shamanna RA, Kalyanasundaram S, Bollineni RC, Wilson MA, Iser WB, Wollman BN, Morevati M, Li J, Kerr JS, Lu Q, Waltz TB, Tian J, Sinclair DA, Mattson MP, Nilsen H, Bohr VA
  NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. Cell Metab. 2016 Oct 11;24(4):566-581. doi: 10.1016/j.cmet.2016.09.004.
•   Gueven N, Luff J, Peng C, Hosokawa K, Bottle SE, Lavin MF
  Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic Biol Med. 2006 Sep 15;41(6):992-1000. doi: 10.1016/j.freeradbiomed.2006.06.018. Epub 2006 Jul 4.
•   Gul E, Sayar EH, Gungor B, Eroglu FK, Surucu N, Keles S, Guner SN, Findik S, Alpdundar E, Ayanoglu IC, Kayaoglu B, Geckin BN, Sanli HA, Kahraman T, Yakicier C, Muftuoglu M, Oguz B, Cagdas Ayvaz DN, Gursel I, Ozen S, Reisli I, Gursel M
  Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. J Allergy Clin Immunol. 2018 Jul;142(1):246-257. doi: 10.1016/j.jaci.2017.10.030. Epub 2017 Nov 16.
•   Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT
  ATM activation by oxidative stress. Science. 2010 Oct 22;330(6003):517-21. doi: 10.1126/science.1192912.
•   Hartlova A, Erttmann SF, Raffi FA, Schmalz AM, Resch U, Anugula S, Lienenklaus S, Nilsson LM, Kroger A, Nilsson JA, Ek T, Weiss S, Gekara NO
  DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity. Immunity. 2015 Feb 17;42(2):332-343. doi: 10.1016/j.immuni.2015.01.012.
•   Kim J, Gupta R, Blanco LP, Yang S, Shteinfer-Kuzmine A, Wang K, Zhu J, Yoon HE, Wang X, Kerkhofs M, Kang H, Brown AL, Park SJ, Xu X, Zandee van Rilland E, Kim MK, Cohen JI, Kaplan MJ, Shoshan-Barmatz V, Chung JH
  VDAC oligomers form mitochondrial pores to release mtDNA fragments and promote lupus-like disease. Science. 2019 Dec 20;366(6472):1531-1536. doi: 10.1126/science.aav4011. Epub 2019 Dec 19.
•   Lautrup S, Sinclair DA, Mattson MP, Fang EF
  NAD+ in Brain Aging and Neurodegenerative Disorders. Cell Metab. 2019 Oct 1;30(4):630-655. doi: 10.1016/j.cmet.2019.09.001.
•   Nissenkorn A, Borgohain R, Micheli R, Leuzzi V, Hegde AU, Mridula KR, Molinaro A, D'Agnano D, Yareeda S, Ben-Zeev B
  Development of global rating instruments for pediatric patients with ataxia telangiectasia. Eur J Paediatr Neurol. 2016 Jan;20(1):140-6. doi: 10.1016/j.ejpn.2015.09.002. Epub 2015 Sep 25.
•   Paap BK, Roeske S, Durr A, Schols L, Ashizawa T, Boesch S, Bunn LM, Delatycki MB, Giunti P, Lehericy S, Mariotti C, Melegh J, Pandolfo M, Tallaksen CME, Timmann D, Tsuji S, Schulz JB, van de Warrenburg BP, Klockgether T
  Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Mov Disord Clin Pract. 2016 Feb 11;3(3):230-240. doi: 10.1002/mdc3.12315. eCollection 2016 May-Jun.
•   Paul BD, Snyder SH, Bohr VA
  Signaling by cGAS-STING in Neurodegeneration, Neuroinflammation, and Aging. Trends Neurosci. 2021 Feb;44(2):83-96. doi: 10.1016/j.tins.2020.10.008. Epub 2020 Nov 10.
•   Presterud R, Deng WH, Wennerstrom AB, Burgers T, Gajera B, Mattsson K, Solberg A, Fang EF, Nieminen AI, Stray-Pedersen A, Nilsen H
  Long-Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia. Mov Disord. 2024 Feb;39(2):360-369. doi: 10.1002/mds.29645. Epub 2023 Oct 29.
•   Siddoo-Atwal C, Haas AL, Rosin MP
  Elevation of interferon beta-inducible proteins in ataxia telangiectasia cells. Cancer Res. 1996 Feb 1;56(3):443-7.
•   Song X, Ma F, Herrup K
  Accumulation of Cytoplasmic DNA Due to ATM Deficiency Activates the Microglial Viral Response System with Neurotoxic Consequences. J Neurosci. 2019 Aug 7;39(32):6378-6394. doi: 10.1523/JNEUROSCI.0774-19.2019. Epub 2019 Jun 12.
•   Stern N, Hochman A, Zemach N, Weizman N, Hammel I, Shiloh Y, Rotman G, Barzilai A
  Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice. J Biol Chem. 2002 Jan 4;277(1):602-8. doi: 10.1074/jbc.M106798200. Epub 2001 Oct 25.
•   Subramanian GN, Yeo AJ, Gatei MH, Coman DJ, Lavin MF
  Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia. Antioxidants (Basel). 2022 Mar 28;11(4):653. doi: 10.3390/antiox11040653.
•   Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC, Cleveland JL, Green DR, Kastan MB
  Mitochondrial dysfunction in ataxia-telangiectasia. Blood. 2012 Feb 9;119(6):1490-500. doi: 10.1182/blood-2011-08-373639. Epub 2011 Dec 5.
•   van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
  Ataxia-telangiectasia: Immunodeficiency and survival. Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24.
•   Veenhuis SJG, van Os NJH, Janssen AJWM, van Gerven MHJC, Coene KLM, Engelke UFH, Wevers RA, Tinnevelt GH, Ter Heine R, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP
  Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia. Mov Disord. 2021 Dec;36(12):2951-2957. doi: 10.1002/mds.28788. Epub 2021 Sep 13.
•   Woelke S, Pommerening H, Kieslich M, Schubert R, Zielen S
  Growth hormone treatment in patients with ataxia telangiectasia. Growth Factors. 2017 Jun;35(2-3):125-130. doi: 10.1080/08977194.2017.1367681.
•   Yang B, Dan X, Hou Y, Lee JH, Wechter N, Krishnamurthy S, Kimura R, Babbar M, Demarest T, McDevitt R, Zhang S, Zhang Y, Mattson MP, Croteau DL, Bohr VA
  NAD+ supplementation prevents STING-induced senescence in ataxia telangiectasia by improving mitophagy. Aging Cell. 2021 Apr;20(4):e13329. doi: 10.1111/acel.13329. Epub 2021 Mar 18.
•   Yeo AJ, Chong KL, Gatei M, Zou D, Stewart R, Withey S, Wolvetang E, Parton RG, Brown AD, Kastan MB, Coman D, Lavin MF
  Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia. iScience. 2020 Dec 23;24(1):101972. doi: 10.1016/j.isci.2020.101972. eCollection 2021 Jan 22.
•   Zannolli R, Buoni S, Betti G, Salvucci S, Plebani A, Soresina A, Pietrogrande MC, Martino S, Leuzzi V, Finocchi A, Micheli R, Rossi LN, Brusco A, Misiani F, Fois A, Hayek J, Kelly C, Chessa L
  A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord. 2012 Sep 1;27(10):1312-6. doi: 10.1002/mds.25126. Epub 2012 Aug 23.
•   Zapata-Perez R, Wanders RJA, van Karnebeek CDM, Houtkooper RH
  NAD+ homeostasis in human health and disease. EMBO Mol Med. 2021 Jul 7;13(7):e13943. doi: 10.15252/emmm.202113943. Epub 2021 May 27.

Single Arm Open-label Clinical Trial in Ataxia-telangiectasia to Test the Effects of Nicotinamide Riboside on Ataxia Scales, Immune Function, and Neurofilament Light Chain.

Details for clinical trial NCT06324877