Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis

Molecular Genetics and Metabolism

Volumn 103, Issue 2, 2011, Pages 128-134

  O'Brien, Kevin ^a,b   Troendle, James ^c   Gochuico, Bernadette R ^a   Markello, Thomas C ^a   Salas, Jose ^a   Cardona, Hilda ^a   Yao, Jianhua ^b   Bernardini, Isa ^a   Hess, Richard ^a   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Albinism; Hermansky Pudlak syndrome; Pirfenidone; Puerto Rico; Pulmonary fibrosis; Pulmonary function tests

Indexed keywords

PIRFENIDONE; PLACEBO;

ABDOMINAL PAIN; ADULT; ARTHRALGIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DEEP VEIN THROMBOSIS; DIZZINESS; DOUBLE BLIND PROCEDURE; DROWSINESS; DRUG EFFICACY; DRUG ERUPTION; DRUG SAFETY; DRUG WITHDRAWAL; FATALITY; FATIGUE; FEMALE; FORCED VITAL CAPACITY; GASTROESOPHAGEAL REFLUX; HEART PALPITATION; HEARTBURN; HEMATOCHEZIA; HUMAN; HYPERTRANSAMINASEMIA; LUNG FIBROSIS; MALE; MYALGIA; NAUSEA; OCULAR ALBINISM; OTITIS; PATIENT COMPLIANCE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; RASH; SIDE EFFECT; THORAX PAIN; TREATMENT OUTCOME; URTICARIA; VERTIGO; VOMITING;

ADULT; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; MIDDLE AGED; PATIENT COMPLIANCE; PULMONARY FIBROSIS; PYRIDONES; TREATMENT OUTCOME;

EID: 79956266213     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.02.003     Document Type: Article

References (31)

1. Hermansky F., Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959, 14:162-169.
2. Gahl W.A. Hermansky-Pudlak Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2007 2010, Available at. http://www.genetests.org.
3. Huizing M., Helip-Wooley A., Westbroek W., Gunay-Aygun M., Gahl W.A. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu. Rev. Genomics Hum. Genet. 2008, 9:59-86.
4. Wei M.L. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006, 19:19-42.
5. Hussain N., Quezado M., Huizing M., Geho D., White J.G., Gahl W., Mannon P. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clin. Gastroenterol. Hepatol. 2006, 4:73-80.
6. Brantly M., Avila N.A., Shotelersuk V., Lucero C., Huizing M., Gahl W.A. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000, 117:129-136.
7. Gahl W.A., Brantly M., Kaiser-Kupfer M.I., Iwata F., Hazelwood S., Shotelersuk V., Duffy L.F., Kuehl E.M., Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 1998, 338:1258-1264.
8. Anderson P.D., Huizing M., Claassen D.A., White J., Gahl W.A. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum. Genet. 2003, 113:10-17.
9. Witkop C.J., Krumwiede M., Sedano H., White J.G. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am. J. Hematol. 1987, 26:305-311.
10. Witkop C.J., Babcock M.N., Rao G.H.R., Gaudier F., Summers C.G., Shanahan F., Harmon K.R., Townsend D.W., Sedano H.O., King R.A., et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol. Assoc. Med. 1990, 82:333-339.
11. Oh J., Bailin T., Fukai K., Feng G.H., Ho L., Mao J.I., Frenk E., Tamura N., Spritz R.A. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat. Genet. 1996, 14:300-306.
12. Anikster Y., Huizing M., White J., Shevchenko Y.O., Fitzpatrick D.L., Touchman J.W., Compton J.G., Bale S.J., Swank R.T., Gahl W.A., Toro J.R. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat. Genet. 2001, 28:376-380.
13. Avila N.A., Brantly M., Premkumar A., Huizing M., Dwyer A., Gahl W.A. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. Am. J. Roentgenol. 2002, 179:887-892.
14. Gahl W.A., Brantly M., Troendle J., Avila N.A., Padua A., Montalvo C., Cardona H., Calis K.A., Gochuico B. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol. Genet. Metab. 2002, 76:234-242.
15. Lederer D.J., Kawut S.M., Sonnet J.R., Vakiani E., Seward S.L., White J.G., Wilt J.S., Marboe C.C., Gahl W.A., Arcasoy S.M. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J. Heart Lung Transplant. 2005, 24:1697-1699.
16. Iyer S.N., Gurujeyalakshmi G., Giri S.N. Effects of pirfenidone on procollagen gene expression at the transcriptional level in bleomycin hamster model of lung fibrosis. J. Pharmacol. Exp. Ther. 1999, 289:211-218.
17. Kehrer J.P., Margolin S.B. Pirfenidone diminishes cyclophosphamide-induced lung fibrosis in mice. Toxicol. Lett. 1997, 90:125-132.
18. Raghu G., Johnson W.C., Lockhart D., Mageto Y. Treatment of idiopathic pulmonary fibrosis with a new antifibrotic agent, pirfenidone: results of a prospective, open-label Phase II study. Am. J. Respir. Crit. Care Med. 1999, 159:1061-1069.
19. Gochuico B.R., Avila N.A., Chow C.K., Novero L.J., Wu H.P., Ren P., MacDonald S.D., Travis W.D., Stylianou M.P., Rosas I.O. Progressive preclinical interstitial lung disease in rheumatoid arthritis. Arch. Intern. Med. 2008, 168:159-166.
20. Rosas I.O., Yao J., Avila N.A., Chow C.K., Gahl W.A., Gochuico B.R. Quantification of HRCT scan findings in populations at risk for pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 2010, 181:A1115.
21. Chiang P.W., Oiso N., Gautam R., Suzuki T., Swank R.T., Spritz R.A. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J. Biol. Chem. 2003, 278:20332-20337.
22. Dell'Angelica E.C., Shotelersuk V., Aguilar R.C., Gahl W.A., Bonifacino J.S. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol. Cell 1999, 3:11-21.
23. Dell'Angelica E.C., Ooi C.E., Bonifacino J.S. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. J. Biol. Chem. 1997, 272:15078-15084.
24. Lurton J.M., et al. Pirfenidone inhibits the stimulatory effects of pro-fibrotic cytokines on human lung fibroblasts in vitro. Am. J. Respir. Crit. Care Med. 1996, 153:A403.
25. Iyer S.N., Hyde D.M., Giri S.N. Anti-inflammatory effect of pirfenidone in the bleomycin-hamster model of lung inflammation. Inflammation 2000, 24:477-491.
26. Azuma A., Nukiwa T., Tsuboi E., Suga M., Abe S., Nakata K., Taguchi Y., Nagai S., Itoh H., Ohi M., Sato A., Kudoh S., Raghu G. Double-blind, placebo-controlled trial of pirfenidone in patients with idiopathic pulmonary fibrosis. Am. J. Respir. Crit. Care Med. 2005, 171:1040-1047. for the members of the Research Group for Diffuse Lung Diseases in Japan.
27. Taniguchi H., Ebina M., Kondoh Y., Ogura T., Azuma A., Suga M., Taguchi Y., Takahashi H., Nakata K., Sato A., Takeuchi M., Raghu G., Kudoh S., Nukiwa T. Pirfenidone in idiopathic pulmonary fibrosis. Eur. Respir. J. 2010, 35:821-829. Pirfenidone Clinical Study Group in Japan.
28. Spagnolo P., Del Giovane C., Luppi F., Cerri S., Balduzzi S., Walters E.H., D'Amico R., Richeldi L. Non-steroid agents for idiopathic pulmonary fibrosis. Cochrane Database Syst. Rev. 2010, 9.
29. Swank R.T., Novak E.K., McGarry M.P., Rusiniak M.E., Feng L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res. 1998, 11:60-80.
30. Mahavadi P., Korfei M., Henneke I., Liebisch G., Schmitz G., Gochuico B.R., Markart P., Bellusci S., Seeger W., Ruppert C., Guenther A. Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. Am. J. Respir. Crit. Care Med. 2010, 182:207-219.
31. Thannickal V.J., Flaherty K.R., Martinez F.J., Lynch J.P. Idiopathic pulmonary fibrosis: emerging concepts on pharmacotherapy. Expert Opin. Pharmacother. 2004, 5:1671-1686.