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A Spanish test to diagnose rare diseases in a short time
17 February 2015 @ 12:12

       Some days ago, I could read a news full of hope for many people –I think--. The news said the following: “A test allows to diagnose more than 100 rare diseases in 48 hours”.

      A urine sample is sufficient to permit detect or rule, over a hundred of rare diseases, related to metabolism, within 48 hours.

      It is possible through a new test created by the doctor,especialise in rare diseases, Domingo González-Lamuño, from the Universitary Hospital Marqués de Valdecilla (Santander), which facilitates early diagnosis of some disorders, detected late, can be "irreversible".

      As González-Lamuño explained, there are over a thousand different rare metabolic diseases, rare diseases or ultra rare diseases, occurring in one in 10,000 children, or even, in one in 100,000.

      Now, it is intended to provide, to any doctor, a simple, fast and affordable test, for early diagnosis of these disorders.

      The first signs of this disorder are "subtles", as a rejection of Baby feeding, growth problems, altered level of consciousness, movement disorders, sensory disturbances or problems with vision and hearing.

      If not identified early, they can lead to various complications, from cerebral palsy to alterations in organs, blindness, hearing problems, or even death, hence the importance of detecting early.

      Usually, the diagnosis depends on very complex metabolic studies, available only a few centres, with highly skilled professionals, who are not so common.

      With this new test, called MetaTest, the answer can be obtained, within 48 hours, from a urine sample, collected on a filter paper, without having a 'great scholar'. "Innovation is the availability of a very complex system to the pediatrician", sums González-Lamuño.

The Doctor Gonzalez-Lamuño

      The test is based on the technology, already used by a group, who works in India and Germany, who applied, to the analysis of samples of healthy babies, what, in the opinion of this specialist from Valdecilla and professor at the University of Cantabria, could cause false positives.

      So, he made contact with them and he proposed them to improve the system, designing algorithms, to associate the changes of metabolites, detected in the urine sample, with different symptoms.

      The result is a reality, and after getting investors for the project (a Spanish-Portuguese group, another Austrian-German, another Hindu and the own González-Lamuño), it has been created the Centre for Diagnosis and Advanced Metabolic Studies of Cantabria (Cdemac).

      In this laboratory, the samples are received, a metabolic profile is obtained, clinical patient data are reviewed and all that information is refered, to the group of India, for analysis, with mathematical system.

The laboratory where the sample, for the test that detects rare diseases, is analyzed

        Since the sample arrives to the laboratory, you can have the result within 48 hours, even less, as happened at Christmas, when, in 36 hours, there was a response, which could be delivered, that was obtained on December 31 morning, "when all laboratories in Spain were closed", says Gonzalez Lamuño.

      In Valdecilla, they began to use this technology, with critical patients, on last fall, and has already been diagnosed three patients. The challenge, now, is to ensure that this system reaches any doctor, not only of Cantabria or Spain, but from anywhere in the world.

      In this sense, the test costs 300 Euros, by the moment, although the intention is to reduce the price further . As the doctor said, it is "cheaper than the most of the tests", that pediatricians apply, in these cases.

      If you also get doctors to suspect soon, after the symptoms of a child, may be a metabolic disease, you can diagnose its ailment "seven, ten, fifteen, twenty, or a month before what is being detected now", which involves identifying the disease at a "very early stage" and have a treatment and prognosis "radically different", concluded González-Lamuño.

      Just this morning, has spoken, on the radio, the Legal Adviser of the Spanish Federation of Rare Diseases and he said that "the problem is not money, to investigate new treatments, but the lack of coordination, between the Central Administration and the Autonomous Communities, because it draws the application of treatments out". I hope this problem is resolved soon, for the sake of patients.

      Until my next post, kind regards,


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