The Challenge of Rare Diseases

Chest

Volumn 153, Issue 6, 2018, Pages 1309-1314

  Stoller, James K ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

alpha 1 antitrypsin deficiency; lymphangioleiomyomatosis; rare disease

Indexed keywords

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; AWARENESS; BIRT HOGG DUBE SYNDROME; CAREER; CAREGIVER; CILIARY DYSKINESIA; COHORT ANALYSIS; COMMUNITY CARE; EMPHYSEMA; FOSTER CARE; FUNDING; HISTIOCYTOSIS; HUMAN; INTENSIVE CARE; KNOWLEDGE; LUNG FUNCTION; LYMPHANGIOLEIOMYOMATOSIS; PATIENT ADVOCACY; PATIENT CARE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; RARE DISEASE; RESIDENT; RESPIRATORY CARE; MORBIDITY; REGISTER; UNITED STATES;

HUMANS; MORBIDITY; RARE DISEASES; REGISTRIES; UNITED STATES;

EID: 85044518952     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1016/j.chest.2017.12.018     Document Type: Article

References (27)

1. Griggs, R.C., Batshaw, M., Dunkle, M., et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 96:1 (2009), 20–26.
2. Stoller, J.K., Aboussouan, L.S., A review of alpha1-antitrypsin deficiency. Am J Respir Crit Care Med 185:3 (2012), 246–259.
3. Aboussouan, L.S., Stoller, J.K., Detection of alpha-1 antitrypsin deficiency: a review. Respir Med 103:3 (2009), 335–341.
4. Stoller, J.K., Brantly, M., The challenge of detecting alpha-1 antitrypsin deficiency. COPD 10 suppl 1 (2013), 26–34.
5. Luisetti, M., Seersholm, N., Alpha1-antitrypsin deficiency. 1: Epidemiology of alpha1-antitrypsin deficiency. Thorax 59:2 (2004), 164–169.
6. Stoller, J.K., Smith, P., Yang, P., Spray, J., Physical and social impact of alpha 1-antitrypsin deficiency: results of a survey. Cleve Clin J Med 61:6 (1994), 461–467.
7. Stoller, J.K., Sandhaus, R.A., Turino, G., Dickson, R., Rodgers, K., Strange, C., Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 128:4 (2005), 1989–1994.
8. Greulich, T., Ottaviani, S., Bals, R., et al. Alpha1-antitrypsin deficiency - diagnostic testing and disease awareness in Germany and Italy. Respir Med 107:9 (2013), 1400–1408.
9. McElvaney, N.G., Stoller, J.K., Buist, A.S., et al. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest 111:2 (1997), 394–403.
10. Chapman, K.R., Burdon, J.G., Piitulainen, E., et al. Intravenous augmentation treatment and lung density in severe alpha1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet 386:9991 (2015), 360–368.
11. Tejwani V NA, Fye E, Sanders C, Stoller JK. System and airflow correlates of delayed diagnosis in alpha-1 antitrypsin deficiency. Paper presented at American College of Chest Physicians International Meeting; October 29, 2017; Toronto, ON, Canada.
12. Taliercio, R.M., Chatburn, R.L., Stoller, J.K., Knowledge of alpha-1 antitrypsin deficiency among internal medicine house officers and respiratory therapists: results of a survey. Respir Care 55:3 (2010), 322–327.
13. Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency. American Thoracic Society. Am Rev Respir Dis 140:5 (1989), 1494–1497.
14. American Thoracic Society/European Respiratory Society. Standards for the diagnosis and management of patients with alpha-1 antitrypsin deficiency. Stoller JK (Co-chairman), Snider GL, Brantly ML, Fallat RJ, Stockley RA (Executive Committee). Am J Respir Crit Care Med 168 (2003), 816–900.
15. Abboud, R.T., Ford, G.T., Chapman, K.R., Alpha1-antitrypsin deficiency: a position statement of the Canadian Thoracic Society. Can Respir J 8:2 (2001), 81–88.
16. Marciniuk, D.D., Hernandez, P., Balter, M., et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J 19:2 (2012), 109–116.
17. Walsh, J.W., Snider, G.L., Stoller, J.K., A review of the alpha-1 foundation: its formation, impact, and critical success factors. Respir Care 51:5 (2006), 526–531.
18. Alpha-1 Foundation. www.alpha1.org. Accessed November 5, 2017.
19. HHT Foundation. Directory.curehht.org. Accessed November 19, 2017.
20. U.S. Food and Drug Administration. Orphan Drug Act - relevant excerpts. https://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/HowtoapplyforOrphanProductDesignation/ucm364750.htm. Accessed November 5, 2017.
21. Ryde, D., Impatient patients. BMJ 3:5881 (1973), 639–640.
22. Greene, J., Hibbard, J.H., Why does patient activation matter? An examination of the relationships between patient activation and health-related outcomes. J Gen Intern Med 27:5 (2012), 520–526.
23. Make, B., Collaborative self-management strategies for patients with respiratory disease. Respir Care 39:5 (1994), 566–579.
24. U.S. Food and Drug Administration. Developing products for rare diseases & conditions. https://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/ucm2005525.htm. Accessed November 17, 2017.
25. National Center for Advancing Translational Sciences, Rare Diseases Clinical Research Network. www.ncats.nih.gov. Accessed November 5, 2017.
26. Rahaghi, F.F., Sandhaus, R.A., Brantly, M.L., et al. The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction. COPD 9:4 (2012), 352–358.
27. Stoller, J.K., Strange, C., Schwarz, L., Kallstrom, T.J., Chatburn, R.L., Detection of alpha-1 antitrypsin deficiency by respiratory therapists: experience with an educational program. Respir Care 59:5 (2014), 667–672.