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International Journal of

Rare Diseases and DisordersISSN: 2643-4571

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 Open Access DOI:10.23937/ijrdd-2017/1710005

Evaluation and Valuation of the Price of Expensive Medicinal Products: Application of the Discounted Cash Flow to Orphan Drugs

Mark Nuijten, Hans Joerg Fugel and Jan Vis

Article Type: Research Article | First Published: December 19, 2018

The current policy for price negotiations on high prices of orphan drugs in Europe is neither a transparent nor a structural solution for reimbursement decisions for orphan drugs. In a previous paper, we proposed the Discounted Cash Flow model as an alternative assessment methodology for the price of innovative drugs including the investor's perspective. The objective of this current paper was to apply this concept to orphan drugs in The Netherlands, where pharmaceutical companies were recently ...

 Open Access DOI:10.23937/ijrdd-2017/1710004

Retinal Overload Individualized during Hurler-Scheie Disease: Case Study Observations

Amine Hamma

Article Type: Case Report | First Published: July 11, 2018

Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs including the eye....

 Open Access DOI:10.23937/ijrdd-2017/1710003

Concurrent Breast Cancer and Thymoma in an Immune Reconstituted HIV Positive Patient

SJ Winceslaus, Venkateshwaran Sivaraj, Julia Hall and Ramsay Singer

Article Type: Case Report | First Published: April 21, 2018

The expectation that the introduction of modern cART against HIV, leading to viral suppression and functional cure, would also herald complete immunological recovery has not materialised. In reality, even with the most effective cART, complete immunological recovery is seldom achieved, especially, if initiated at later stages of the disease. Thus, patients who do not achieve full immunological recovery remain at increased risk of cancers, chronic immune activation, inflammation and impaired coag...

 Open Access DOI:10.23937/ijrdd-2017/1710002

First Case of Gyrate Atrophy with Hyperornithinemia in Cuba Diagnosed by Ornithine Levels and Ophthalmological Evaluation

Contreras Roura Jiovanna, Robaina Zoe, Camayd Viera Ivette, Gonzalez-Gomez JC, Perez Garcia E, Martinez-Rey Laritza and Padron Aurelio David

Article Type: Original Article | First Published: March 29, 2018

Gyrate atrophy (GA) of the choroid and retina (GACR) is an extremely rare inherited retinal dystrophy. The disease is an autosomic recessive disorder, caused by mutations in the ornithine aminotransferase gene (OAT), which is localized on chromosome 10q26....

 Open Access DOI:10.23937/ijrdd-2017/1710001

Hereditary Ichthyosis and Achieving the Oral Mucosa, Retrospective Study of 33 Cases

Pr Omar Boudghene Stambouli and Dib Lachachi Amina

Article Type: Case Study | First Published: October 19, 2017

This is the most frequent and is transmitted on an autosomal dominant mode. It appears from the first months of life and is manifested by flaky scales on the faces of extension of the limbs and convexities in general. The face and the large folds are respected....

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