<abstract xmlns="http://www.w3.org/1999/xhtml"> The 4th meeting on rare diseases in South Eastern Europe (SEE) was held in Skopje, at the Macedonian Academy of Sciences and Arts (MASA) on the 14th of November 2015. The focuses were metabolic, rare brain diseases as well as the rare dysmorphic syndrome. The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. The talk on an iminosugar-based pharmacological chaperone compound as a drug candidate for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B) was enlightening. To date, there is no treatment available to be offered to patients, but chaperones lead mutated proteins to adopt a native-like conformation and to successfully traffic to their normal cellular destination. DORPHAN is developing an iminosugar-based pharmacological chaperone compound for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB. A talk on recent developments in the laboratory diagnosis of mucopolysaccharidoses (MPS) was particularly interesting, covering the laboratory diagnosis of the MPS diseases by a strategy of clinical examination, biochemical analysis of urine samples, enzyme tests and genetic characterization of underlying mutations. New techniques were developed, including analysis of urinary glycosaminoglycans with tandem mass spectrometry, miniaturized enzyme tests or novel synthetic substrates for enzyme assays using mass spectrometry detection of products using dried blood spots. Feasibility and cost-effectiveness of these methods in newborn screening programs have been demonstrated. Neuromuscular RDs, and especially familial amyloid polyneuropathy (FAP) were a topic of the Bulgarian colleagues. Diagnosis, screening and the role of microglia were also topics of particular interest. In summary, this year RD meeting was exciting and productive on a wide range of diseases and on a novel insights on diagnosis and treatment. New methods are expanding our capabilities for a fast and precise diagnosis. Novel knowledge offers better distinction on whom to treat with which medications (e.g. steroid dependent nephrotic syndrome). Novel diseases or variants are published (segmental overgrowth). The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. Namely, the Health Fund of Macedonia for the first time treats the patients with Gaucher′s disease. We are hopeful that the number of patients treated for Gaucher′s disease and the number of treated patients with other treatable RDs diseases will continue to grow.</abstract>

The 4th meeting on rare diseases in South Eastern Europe (SEE) was held in Skopje, at the Macedonian Academy of Sciences and Arts (MASA) on the 14th of November 2015. The focuses were metabolic, rare brain diseases as well as the rare dysmorphic syndrome. The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. The talk on an iminosugar-based pharmacological chaperone compound as a drug candidate for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B) was enlightening. To date, there is no treatment available to be offered to patients, but chaperones lead mutated proteins to adopt a native-like conformation and to successfully traffic to their normal cellular destination. DORPHAN is developing an iminosugar-based pharmacological chaperone compound for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB. A talk on recent developments in the laboratory diagnosis of mucopolysaccharidoses (MPS) was particularly interesting, covering the laboratory diagnosis of the MPS diseases by a strategy of clinical examination, biochemical analysis of urine samples, enzyme tests and genetic characterization of underlying mutations. New techniques were developed, including analysis of urinary glycosaminoglycans with tandem mass spectrometry, miniaturized enzyme tests or novel synthetic substrates for enzyme assays using mass spectrometry detection of products using dried blood spots. Feasibility and cost-effectiveness of these methods in newborn screening programs have been demonstrated. Neuromuscular RDs, and especially familial amyloid polyneuropathy (FAP) were a topic of the Bulgarian colleagues. Diagnosis, screening and the role of microglia were also topics of particular interest. In summary, this year RD meeting was exciting and productive on a wide range of diseases and on a novel insights on diagnosis and treatment. New methods are expanding our capabilities for a fast and precise diagnosis. Novel knowledge offers better distinction on whom to treat with which medications (e.g. steroid dependent nephrotic syndrome). Novel diseases or variants are published (segmental overgrowth). The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. Namely, the Health Fund of Macedonia for the first time treats the patients with Gaucher′s disease. We are hopeful that the number of patients treated for Gaucher′s disease and the number of treated patients with other treatable RDs diseases will continue to grow.

4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015)

University Children′s Hospital, Medical Faculty Skopje, R. Macedonia

Macedonian Academy of Sciences and Arts, Skopje, R. Macedonia

PRILOZI

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

4 Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14, 2015)

The 4th meeting on rare diseases in South Eastern Europe (SEE) was held in Skopje, at the Macedonian Academy of Sciences and Arts (MASA) on the 14th of...

4^th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14^th, 2015)

Publié en ligne: 14 avr. 2016

Pages: 154 - 159

DOI: https://doi.org/10.1515/prilozi-2015-0091

Mots clés
Rare diseases, Macedonian Academy of Sciences and Arts, mucopolisaccharidoses, segmental overgrowth, steroid dependant nephrotic syndrome, neuromuscular RDs, familial amyloid polyneuropathy (FAP), phenulcetonuria, Pompe

© 2016

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

4th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14th, 2015)

Publié en ligne: 14 avr. 2016

Pages: 154 - 159

DOI: https://doi.org/10.1515/prilozi-2015-0091

Mots clésRare diseases, Macedonian Academy of Sciences and Arts, mucopolisaccharidoses, segmental overgrowth, steroid dependant nephrotic syndrome, neuromuscular RDs, familial amyloid polyneuropathy (FAP), phenulcetonuria, Pompe

© 2016

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

4^th Rare Disease South Eastern Europe (See) Meeting Skopje, Macedonia (November 14^th, 2015)

Mots clés
Rare diseases, Macedonian Academy of Sciences and Arts, mucopolisaccharidoses, segmental overgrowth, steroid dependant nephrotic syndrome, neuromuscular RDs, familial amyloid polyneuropathy (FAP), phenulcetonuria, Pompe