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Executive Summary – Jul. 24, 2014

Fifth Journal Supplement on Research Methods: Patient-Centered Health Outcomes in Rare Diseases

In April 2013, AHRQ issued a call to authors for abstracts describing original research or systematic reviews on methodologies for studying patient-centered health outcomes in rare diseases . The project was a follow-up to an AHRQ research conference series that began in 2006 and has previously produced four journal supplements dedicated to research methods. Authors with abstracts that were highly rated by a panel of rare disease experts were invited to submit a manuscript for peer-review and potential publication in a supplement to the Journal of General Internal Medicine.

Below are links to the article accepted for publication; these articles are freely available online. A free printed copy of the journal supplement is also available through the AHRQ Publications Clearinghouse. To order a printed copy of the supplement, call 800-358-9295 or send an email to AHRQpubs@ahrq.hhs.gov. Refer to AHRQ publication number OM14-0049: DEcIDE rare disease methods supplement when ordering.

Journal of General Internal Medicine, Volume 29, Supplement 3, August 2014.

Introduction to a Supplement on Innovative Approaches to Studying Health Outcomes in Rare Diseases (http://link.springer.com/article/10.1007/s11606-014-2921-yExit Disclaimer
Kesselheim AS, Gagne JJ. Introduction to a Supplement on Innovative Approaches to Studying Health Outcomes in Rare Diseases. J Gen Intern Med. 2014 Aug;29 Suppl 3:709-11. doi: 10.1007/s11606-014-2921-y. PMID: 25029981.

Editorial and Comment

Preface to the AHRQ Supplement (http://link.springer.com/article/10.1007/s11606-014-2922-xExit Disclaimer
Smith SR. Preface to the AHRQ Supplement. J Gen Intern Med. 2014 Aug;29 Suppl 3:712-3. doi: 10.1007/s11606-014-2922-x. PMID: 25029982.

Original Research

Highly Effective Cystic Fibrosis Clinical Research Teams: Critical Success Factors (http://link.springer.com/article/10.1007/s11606-014-2896-8) Exit Disclaimer
Retsch-Bogart GZ, Van Dalfsen JM, Marshall BC, et al. Highly Effective Cystic Fibrosis Clinical Research Teams: Critical Success Factors. JJ Gen Intern Med. 2014 Aug;29 Suppl 3:714-23. doi: 10.1007/s11606-014-2896-8. PMID: 25029977.

Quantifying a Rare Disease in Administrative Data: The Example of Calciphylaxis(http://link.springer.com/article/10.1007/s11606-014-2910-1 Exit Disclaimer
Nigwekar SU, Solid CA, Ankers E, et al. Quantifying a Rare Disease in Administrative Data: The Example of Calciphylaxis. J Gen Intern Med. 2014 Aug;29 Suppl 3:724-31. doi: 10.1007/s11606-014-2910-1. PMID: 25029979.

Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions (http://link.springer.com/article/10.1007/s11606-014-2925-7) Exit Disclaimer
Royer JA, Hardin JW, McDermott S, et al. Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions. J Gen Intern Med. 2014 Aug;29 Suppl 3:732-8. doi: 10.1007/s11606-014-2925-7. PMID: 25029984.

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes (http://link.springer.com/article/10.1007/s11606-014-2894-x) Exit Disclaimer
Krischer JP, Gopal-Srivastava R, Groft SC, Eckstein DJ; for the Rare Diseases Clinical Research Network. The Rare Diseases Clinical Research Network's Organization and Approach to Observational Research and Health Outcomes Research. J Gen Intern Med. 2014 Aug;29 Suppl 3:739-44. doi: 10.1007/s11606-014-2894-x. PMID: 25029976.

Orphan therapies: Making best use of postmarket data (http://link.springer.com/article/10.1007/s11606-014-2882-1) Exit Disclaimer
Maro JC, Brown JS, Pan GJ, Li L. Orphan Therapies: Making Best Use of Postmarket Data. J Gen Intern Med. 2014 Aug;29 Suppl 3:745-51. doi: 10.1007/s11606-014-2882-1. PMID: 25029972.

Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)(http://link.springer.com/article/10.1007/s11606-014-2917-7) Exit Disclaimer
Thyen U, Lux A, Jürgensen M, et al. Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD). J Gen Intern Med. 2014 Aug;29 Suppl 3:752-9. doi: 10.1007/s11606-014-2917-7. PMID: 25029980.

Longitudinal Changes in Health-Related Quality of Life for Chronic Diseases: An Example in Hemophilia A (http://link.springer.com/article/10.1007/s11606-014-2893-y) Exit Disclaimer
Poon JL, Doctor JN, Nichol MB. Longitudinal Changes in Health-Related Quality of Life for Chronic Diseases: An Example in Hemophilia A. J Gen Intern Med. 2014 Aug;29 Suppl 3:760-6. doi: 10.1007/s11606-014-2893-y. PMID: 25029975.

Using Value of Information Methods When the Disease is Rare and the Treatment is Expensive &emdash; The Example of Hemophilia (http://link.springer.com/article/10.1007/s11606-014-2880-3) Exit Disclaimer
Abrahamyan L, Willan AR, Beyene J, Mclimont M, Blanchette V, Feldman BM; for the Canadian Hemophilia Primary Prophylaxis (CHPS) Study Group. Using Value-of-Information Methods when the Disease Is Rare and the Treatment Is Expensive-The Example of Hemophilia A. J Gen Intern Med. 2014 Aug;29 Suppl 3:767-73. doi: 10.1007/s11606-014-2880-3. PMID: 25029970.

Application of a Policy Framework for the Public Funding of Drugs for Rare Diseases (http://link.springer.com/article/10.1007/s11606-014-2885-y) Exit Disclaimer
Winquist E, Coyle D, Clarke JT, et al. Application of a Policy Framework for the Public Funding of Drugs for Rare Diseases. J Gen Intern Med. 2014 Aug;29 Suppl 3:774-9. doi: 10.1007/s11606-014-2885-y. PMID: 25029973.

Reviews

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. (http://link.springer.com/article/10.1007/s11606-014-2908-8) Exit Disclaimer
Thompson R, Johnston L, Taruscio D, et al.RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research. J Gen Intern Med. 2014 Aug;29 Suppl 3:780-7. doi: 10.1007/s11606-014-2908-8. PMID: 25029978.

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases (http://link.springer.com/article/10.1007/s11606-014-2895-9) Exit Disclaimer
Forsythe LP, Szydlowski V, Murad MH, et al. A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases. J Gen Intern Med. 2014 Aug;29 Suppl 3:788-800. doi: 10.1007/s11606-014-2895-9. PMID: 25047393.

Perspectives

Patient-Reported Outcomes in Clinical Trials of Rare Diseases (http://link.springer.com/article/10.1007/s11606-014-2892-z) Exit Disclaimer
Basch E, Bennett AV. Patient-Reported Outcomes in Clinical Trials of Rare Diseases. J Gen Intern Med. 2014 Aug;29 Suppl 3:801-3. doi: 10.1007/s11606-014-2892-z. PMID: 25029974.

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development (http://link.springer.com/article/10.1007/s11606-014-2881-2) Exit Disclaimer
Pariser AR, Gahl WA. Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development. J Gen Intern Med. 2014 Aug;29 Suppl 3:804-7. doi: 10.1007/s11606-014-2881-2. PubMed PMID: 25029971.

Healing Arts

A Lesson in Participatory Research for a Rare Mutation of Cystic Fibrosis (http://link.springer.com/article/10.1007/s11606-014-2923-9) Exit Disclaimer
Kramer-Golinkoff E. A Lesson in Participatory Research for a Rare Mutation of Cystic Fibrosis. J Gen Intern Med. 2014 Aug;29 Suppl 3:808-9. doi: 10.1007/s11606-014-2923-9. PMID: 25029983.

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