Payer Assessment and Reimbursement Policy for Rare Diseases: A Review of the Literature

Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.

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Incentives for Pharmaceutical Companies to Develop Treatments for Rare Diseases: A Review of the Literature

International Journal of Rare Diseases & Disorders ◽

10.23937/2643-4571/1710034 ◽

2021 ◽

Vol 4 (2) ◽

Author(s):

Syed Abedi ◽

Jessica Chen ◽

Sarala Joshi ◽

Shefali Singh ◽

Mustafa Sultan ◽

...

Keyword(s):

Rare Diseases ◽

Pharmaceutical Companies ◽

Review Of The Literature

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Faculty evaluation: review of the literature most pertinent to dental education

Journal of Dental Education ◽

10.1002/j.0022-0337.1977.41.6.tb01095.x ◽

1977 ◽

Vol 41 (6) ◽

pp. 290-300

Author(s):

DW Chambers

Keyword(s):

Dental Education ◽

Faculty Evaluation ◽

Review Of The Literature

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The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

Emerging Topics in Life Sciences ◽

10.1042/etls20180178 ◽

2019 ◽

Vol 3 (1) ◽

pp. 97-105

Author(s):

Mary Zuccato ◽

Dustin Shilling ◽

David C. Fajgenbaum

Keyword(s):

Rare Diseases ◽

Treatment Options ◽

Castleman Disease ◽

High Impact ◽

Collaborative Network ◽

Network Approach ◽

Grant Applications ◽

Research Questions ◽

Novel Strategy ◽

Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

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Telepractice for Adult Speech-Language Pathology Services: A Systematic Review

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_persp-19-00146 ◽

2020 ◽

Vol 5 (1) ◽

pp. 326-338 ◽

Cited By ~ 9

Author(s):

Kristen Weidner ◽

Joneen Lowman

Keyword(s):

Systematic Review ◽

Primary Progressive Aphasia ◽

Future Research ◽

Service Delivery Model ◽

Speech Language Pathology ◽

Review Of The Literature ◽

Research Designs ◽

Assessment And Treatment ◽

Language Pathology ◽

Screening Assessment

Purpose We conducted a systematic review of the literature regarding adult telepractice services (screening, assessment, and treatment) from approximately 2014 to 2019. Method Thirty-one relevant studies were identified from a literature search, assessed for quality, and reported. Results Included studies illustrated feasibility, efficacy, diagnostic accuracy, and noninferiority of various speech-language pathology services across adult populations, including chronic aphasia, Parkinson's disease, dysphagia, and primary progressive aphasia. Technical aspects of the equipment and software used to deliver services were discussed. Some general themes were noted as areas for future research. Conclusion Overall, results of the review continue to support the use of telepractice as an appropriate service delivery model in speech-language pathology for adults. Strong research designs, including experimental control, across multiple well-described settings are still needed to definitively determine effectiveness of telepractice services.

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