A team of experts from the Sant Joan de Déu Hospital in Barcelona has discovered a treatment that significantly improves the stability of children suffering from a rare metabolic disease called PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides.

This pathology causes instability when walking, lack of motor coordination, and problems of language and concentration; similar to the cerebellar symptoms by alcoholic intoxication. Until now no treatment was available.

The researchers discovered that a drug on the market —which costs two euros and is indicated for the treatment of mountain sickness, heart failure, glaucoma and epilepsy— is also effective for this syndrome. The discovery, carried out by Mercedes Serrano and Antonio Martínez-Monseny, was published in the journal Annals of Neurology.

PMM2-CDG is a pathology caused by a congenital error of metabolism, in particular, by a congenital deficiency of protein glycosylation —more than 120 diseases are known from this group of deficiencies, but PMM2-CDG is the most frequent. PMM2-CDG is a rare disease that affects about 70 patients in Spain. In 30% of cases, children suffer a severe and multiorganic degree that can be fatal.

In addition, these children are at high risk of suffering stroke-like episodes that may resemble a cerebral infarction (obnubilation, seizures, paralysis …), but which require a different treatment.

These stroke-like episodes occur in some canalopathies, diseases where proteins that regulate the entry and exit of molecules in neurons do not work properly. As treatment with acetazolamide is effective to treat these episodes, the researchers considered that it could also be effective for children affected by PMM2-CDG.

Improvement in 87% of those affected

For six months and in coordination with doctors from all over Spain who care for patients with this disease, the researchers supplied acetazolamide to 23 children with PMM2- CDG from several parts of Spain; 20 of them improved.

After this period, the researchers stopped the treatment in half of the group for five weeks to compare their evolution with those who continued to receive acetazolamide and assess whether the improvement they had experienced was attributable or not to pharmacological treatment.

The results showed that the children who continued to take the drug remained stable. On the contrary, those who stopped it relapsed to their initial situation.

 

Source: SINC