On behalf of the Federal Ministry of Health (BMG), the German Institute for Quality and Efficiency in Health Care (IQWiG) examined whether specific methodological aspects have to be considered in the conduct, analysis and assessment of the certainty of results of studies on rare diseases. Within the framework of the same commission, the Institute also analysed the underlying studies for the approval of so-called orphan drugs, i.e. drugs for rare diseases, in Europe.
The result: For a different approach than in more common diseases, there are neither scientific reasons nor specific designs and methods that would not also be relevant for more common diseases. This is the case for both drug and non-drug treatments. If compromises have to be made with regard to the reliability of the conclusions because of a particularly small number of participants, raising the significance level is preferable to a limitation of the external or even internal validity of the studies.
Focus on rare diseases
In the European Union diseases are classified as rare if they occur in not more than 5 per 10 000 inhabitants. Very rare diseases are diseases that affect fewer than 2 per 100 000 inhabitants. Of approximately 30 000 known diseases, 7000 to 8000 are considered rare, so that in Germany alone up to 4 million people are affected.
Like a colony of bacteria or species of animals, cancer cells within a tumor must evolve to survive. A dose of chemotherapy may kill hundreds of thousands of cancer cells, for example, but a single cell with a unique mutation can survive and quickly generate a new batch of drug-resistant cells, making cancer hard to combat.
Now, scientists at the Salk Institute have uncovered details about how cancer is able to become drug resistant over time, a phenomenon that occurs because cancer cells within the same tumor aren’t identical- the cells have slight genetic variation, or diversity. The new work, published October 20 in PNAS, shows how variations in breast cancer cells’ RNA, the molecule that decodes genes and produces proteins, helps the cancer to evolve more quickly than previously thought. These new findings may potentially point to a “switch” to turn off this diversity- and thereby drug resistance- in cancer cells.
“It’s an inherent property of nature that in a community- whether it is people, bacteria or cells- a small number of members will likely survive different types of unanticipated environmental stress by maintaining diversity among its members,” says the senior author of the new work, Beverly Emerson, professor of Salk’s Regulatory Biology Laboratory and holder of the Edwin K. Hunter Chair. “Cancer co-ops this diversification strategy to foster drug resistance.”
Instead of looking at a single gene or pathway to target with cancer therapies, lead author Fernando Lopez-Diaz, Salk staff scientist, and the team aim to uncover the diversification “switch” by which cancer cells replicate but vary slightly from one another. Turning off this cellular process would strip cancer’s ability to survive drug treatment.
About 20% of younger siblings of children with Autism Spectrum Disorder (ASD) will develop the condition by age 3. A new study by Yale School of Medicine researchers has found that 57% of these younger siblings who later develop the condition already showed symptoms at age 18 months.
Published in the October Journal of the American Academy of Child & Adolescent Psychiatry, this is the first large-scale, multi-site study aimed at identifying specific social-communicative behaviors that distinguish infants with ASD from their typically and atypically developing high-risk peers as early as 18 months of age.
“While the majority of siblings of children with ASD will not develop the condition themselves, for those who do, one of the key priorities is finding more effective ways of identifying and treating them as early as possible,” said lead author Katarzyna Chawarska, associate professor in the Yale Child Study Center and the Department of Pediatrics at Yale School of Medicine. “Our study reinforces the need for repeated diagnostic screening in the first three years of life to identify individual cases of ASD as soon as behavioral symptoms are apparent.”
Chawarska and her co-authors pooled data from eight sites participating in the Autism Speaks Baby Siblings Research Consortium. The team closely examined social, communicative, and repetitive behaviors in 719 infants when they were 18 months old. The team looked for patterns that might predict a later diagnosis of ASD. They then followed up when the participants were age 3.
Researchers at the University of Calgary’s Hotchkiss Brain Institute (HBI) and Southern Alberta Cancer Research Institute (SACRI) have made a discovery that could prolong the life of people living with glioblastoma - the most aggressive type of brain cancer. Samuel Weiss, PhD, Professor and Director of the HBI, and Research Assistant Professor Artee Luchman, PhD, and colleagues, published their work today in Clinical Cancer Research, which is leading researchers to start a human phase I/II clinical trial as early as Spring 2015.
Researchers used tumour cells derived from 100 different glioblastoma patients to test drugs that could target the disease. When these human brain tumour-initiating cells were inserted into an animal model, researchers discovered that when using a drug, AZD8055, combined with Temozolomide (TMZ) - a drug already taken by most glioblastoma patients - the life of the animals was extended by 30 per cent.
“Shutting off vital tumour growth processes can lead to the death of human brain tumour-initiating cells. Our research has identified a key process in brain tumour growth that we were able to target with AZD8055,” says Luchman from the university’s Cumming School of Medicine and a member of the HBI.
Researchers used the new therapy to inhibit a pathway in the cancer cells known as mTOR signaling - putting the brakes on this pathway, combined with the current standard therapy, caused more of the cancer cells to die. Scientists are now working with investigators at the NCIC Clinical Trials Group (NCIC-CTG) to start a Canadian clinical trial that may eventually include glioblastoma patients across the country.