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Effective Health Care Program

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

Executive Summary

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.

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
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
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
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
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
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
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
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)
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
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
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
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
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
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
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
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
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.