Rare tumors are called. They have a small incidence of population (less than 5,000 people in 10,000 inhabitants) or endocrine organs (thyroid, pituitary glands, adrenal glands …), soft tissue, skin and brain.
22% of cancer patients in Spain cause rare tumors that do not have specific treatment, according to Uterine and Unusual Tumor Groups (GETI).
But the introduction of molecular diagnostics and genomic sequencing to study tumors are the main advances against this kind of cancer.
"A few tumors have very specific molecules of alteration, the best areas for analyzing drugs aimed at these targets," says Ramón de las Peñas, president of GETHI.
Rare tumors and clinical trials
"Research on rare tumors," he adds, "has not only demonstrated the excellent model for finding new therapeutic goals, which is essential in the early development of new medications, but also reveals the need to change the design through clinical trials, the large population of patients is indispensable are the consequences to get out ".
Although, he said, "we must get help from agencies and industry so the doctors can develop these studies."
Moreover, according to this group, the current research on infrequent tumors is already being applied in the most frequent tumors to shorten the duration of clinical trials.
According to the GETHI Group, "communication with patients and relatives is not only a group of people who work on these diseases and a better management and treatment management strategy."
In addition, "professionals also know that experts are willing to help in their decisions and nowadays, intermediaries and platforms have a virtually and instantly possible communication between their specialties."
Orphan drugs, another problem
Also, prior to the World Day of Rare Diseases, the number of orphan drugs, rare or rare diseases, remains one of the remaining patients. 118 of 118 authorized medicines for 118 euros, only 61 have been marketed in Spain.
That is why the Spanish Science and Ultrasound Drug Laboratories Association (AELMHU) proposes the development of a plan that allows rapid and equitable access to Spanish drugs.
"It is It is very important that patients with rare diseases do not have access to treatment delayed, because in many cases they have had very serious diagnosis of the disease, "they said in a statement.
This association emphasizes that in recent years "significant delays in marketing approval have been over the 19-month average, above other European countries."
Besides, The average period for the allocation of the National Code and the marketing of the Oral Drug 12.4 months – between 2002 and 2013 – between 14 months, 2014 and 2017.
"Although not a significant difference, the data reveal that it is necessary to establish policies to reduce inequalities in access, "says AELMHU.
Origin and neurological expression
In addition, the Spanish Neurology Association (SEN) has stressed that 90% of patients with rare diseases do not have a specific treatment of the disease.
At least 45% of these rare pathologies have a neurological origin and more than 50% have no neurological characteristics.
Currently, the diagnosis of a rare disease is approximately five years, exceeding 20% in more than 10 years. In addition, in this process, 50% of patients receive at least one wrong diagnosis.
On the other hand, 47% of people with rare diseases do not have any treatment and less than 10% have to treat the disease, according to data collected in a SEN statement.
"Stimulation of rare diseases is essential, from an epidemiological point of view, as well as from clinical, basic and translational research, to better diagnosis techniques and treatments and to improve cell therapy and medicine. Regeneration is a way of providing current therapeutic solutions," he stressed Dr. Jorge Matías-Guiu, Coordinator of NE Neurogenetics and Rare Diseases Research Group.