Interní Med. 2019; 21(4): 200-204 | DOI: 10.36290/int.2019.048

The new horizons in therapy of rare diseases in cardiology

doc. MUDr. Štěpán Havránek, Ph.D.
II. interní klinika kardiologie a angiologie 1. lékařské fakulty
Univerzity Karlovy v Praze a Všeobecné fakultní nemocnice v Praze

The therapy of rare diseases in cardiology is based on symptomatic treatment, treatment of complications of rare diseases and
in some cases on specific treatment. We mention two diagnosis where modern therapy could slow down progression of disease:
Fabry disease where enzyme replacement therapy and chaperon treatment were introduced with good results. Amyloidosis
associated with transthyretin where new evidence for specific treatment of cardiac manifestation has been recently published.

Keywords: rare diseases, Fabry disease, Transthyretin amyloidosis, therapy

Received: February 6, 2017; Accepted: March 17, 2017; Published: November 1, 2019  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Havránek Š. The new horizons in therapy of rare diseases in cardiology. Interní Med. 2019;21(4):200-204. doi: 10.36290/int.2019.048.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007; 28(10): 1228-1235. Go to original source... Go to PubMed...
    2. Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016; 89(1): 44-54. Go to original source... Go to PubMed...
    3. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. 2004; 337(2): 319-335. Go to original source... Go to PubMed...
    4. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005; 96(6): 842-846. Go to original source... Go to PubMed...
    5. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004; 34(3): 236-242. Go to original source... Go to PubMed...
    6. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007; 146(2): 77-86. Go to original source... Go to PubMed...
    7. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001; 345(1): 9-16. Go to original source... Go to PubMed...
    8. Schiffmann R, Kopp JB, Austin HA, 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001; 285(21): 2743-2749. Go to original source... Go to PubMed...
    9. Thurberg BL, Politei JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol. 2012; 43(4): 610-614. Go to original source... Go to PubMed...
    10. Linhart A. Treatment of Anderson-Fabry disease. Heart. 2008; 94(2): 138-139. Go to original source... Go to PubMed...
    11. Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, et al. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial. J Inherit Metab, DiS. 2019; 42(3): 534-544. Go to original source... Go to PubMed...
    12. Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare, DiS. 2012; 7: 91. Go to original source... Go to PubMed...
    13. Ashe KM, Budman E, Bangari DS, Siegel CS, Nietupski JB, Wang B, et al. Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease. Mol Med. 2015; 21: 389-399. Go to original source... Go to PubMed...
    14. Maleszewski JJ. Cardiac amyloidosis: pathology, nomenclature, and typing. Cardiovasc Pathol. 2015; 24(6): 343-350. Go to original source... Go to PubMed...
    15. Coelho T, Merlini G, Bulawa CE, Fleming JA, Judge DP, Kelly JW, et al. Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis. Neurol Ther. 2016; 5(1): 1-25. Go to original source... Go to PubMed...
    16. Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018; 379(11): 1007-1016. Go to original source... Go to PubMed...
    17. Gonzalez-Lopez E, Lopez-Sainz A, Garcia-Pavia P. Diagnosis and Treatment of Transthyretin Cardiac Amyloidosis. Progress and Hope. Rev Esp Cardiol (Engl Ed). 2017; 70(11): 991-1004. Go to original source... Go to PubMed...
    18. Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, et al. Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol. 2005; 46(6): 1076-1084. Go to original source... Go to PubMed...
    19. Judge DP, Falk RH, Maurer MS, Shah SJ, Witteles RM, Grogan M, et al. Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy. J Am Coll Cardiol. 2019. Go to original source... Go to PubMed...
    20. Sant'Anna R, Gallego P, Robinson LZ, Pereira-Henriques A, Ferreira N, Pinheiro F, et al. Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity. Nat Commun. 2016; 7: 10787. Go to original source... Go to PubMed...
    21. Solomon SD, Adams D, Kristen A, Grogan M, Gonzalez-Duarte A, Maurer MS, et al. Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis. Circulation. 2019; 139(4): 431-443. Go to original source... Go to PubMed...
    22. Benson MD, Ackermann EJ, Monia BP. Treatment of transthyretin cardiomyopathy with a TTR-specific antisense oligonucleotide (IONIS-TTRRx). Amyloid. 2017; 24(sup1): 134-135. Go to original source... Go to PubMed...

    Return to the content


    Internal Medicine for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.