Home News Archive Serbian registry for myotonic dystrophies celebrates its fifth anniversary!
Serbian registry for myotonic dystrophies celebrates its fifth anniversary!

Serbian DM registry was founded in November 2008 at the Neurology Clinic, Clinical Centre of Serbia, School of Medicine, University of Belgrade.

It has been named Akhenaten after a pharaoh of Egypt who probably suffered from myotonic dystrophy. The founder of the registry and principal investigator is Prof. Vidosava Rakocevic Stojanovic and the main curator of the registry is Dr. Stojan Peric ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ).

After five years of collecting patients, Serbian registry is ready to contribute data to the TREAT-NMD global registry after synchronization since the methods of follow-up differ across different countries and between different specialists.

Akhenaten has been formed to investigate epidemiology and natural history of myotonic dystrophies, to enable the recruitment of patients for research and clinical trials of symptomatic treatment and new promising therapeutic strategies. The registry enables patients to be contacted and informed when there is a study of interest.

Regarding its software, Akhenaten is fully customizable statistical data processing tool powered by Java, Swing and native JDBC developed by two young software engineers – Petar Mitrovic and Sreten Peric. It configures questionnaire form, collects data, displays basic statistics and export Excel sheets.

Data from Akhenaten are based on questionnaire completed by neuromuscular specialists and updated once or twice a year through the regular check-ups. All data are protected – personal data of patients are visible only to the principal investigator and curator, while certain clinical and molecular data may be proceed to the investigators who request data.

When we started in 2008, we retrospectively entered data of all patients hospitalized at our Clinic from 1990 and we invite all of them for check-up. At the same time, we started to prospectively enter data of all patients visiting our Inpatient and Outpatient Unit. Registry was helped from other institutions and professionals.

Serbia has more than 7 million people excluding Kosovo which is under rule of UN. Temporarily Akhenaten comprises data of 290 DM1 patients (55% of whom are genetically confirmed and at the moment we extensively perform genetic analysis for all other patients) and 32 DM2 patients (100% genetically confirmed). Southern blot and Triplet Repeat Primed PCR (TP PCR) are molecular methods used for genetic diagnosis of DM by prof. Ivana Novakovic and our molecular biologists Dr. Valerija Dobricic, Prof. Dusanka Savic and Vesna Ralic, with their teams.

In certain regions of Serbia prevalence of DM1 according to the Akhenaten registry reaches the expected prevalence of DM1 in general population (Figure 1). Unfortunately, in few regions close to the academic centers other than Belgrade (such as Novi Sad, Nis and Kragujevac), there is a small number of included patients. Thus, our next step is to encourage neuromuscular specialists and other professionals to contribute their data to our registry and to inform them that they will have our support in diagnosis and treatment of all patients. Special effort will be given to improve diagnosis of DM2 that is obviously underdiagnosed. We are also hard working on the construction of the registry web site in order to enable patients to register and find answer for their most common questions.

So far, following papers have been based on the data from the Akhenaten registry:

1. Rakocevic Stojanovic V, Peric S, Lavrnic D, Popovic S, Ille T, Stevic Z, Basta I, Apostolski S. Leptin and the metabolic syndrome in patients with myotonic dystrophy type 1. Acta Neurol Scand 2010;121(2):94-8.
2. Peric S, Rakocevic-Stojanovic V, Stevic Z, Basta I, Pavlovic S, Vujanac V, Marjanovic L, Lavrnic D. Health-related quality of life in patients with myotonic dystrophy type 1 and amyotrophic lateral sclerosis. Acta Neurol Belg 2010;110(1):71-7.
3. Peric S, Stojanovic VR, Basta I, Peric M, Milicev M, Pavlovic S, Lavrnic D.Influence of multisystemic affection on health-related quality of life in patients with myotonic dystrophy type 1. Clin Neurol Neurosurg 2013;115(3):270-5.
4. Peric S, Stojanovic VR, Nikolic A, Kacar A, Basta I, Pavlovic S, Lavrnic D. Peripheral neuropathy in patients with myotonic dystrophy type 1. Neurol Res 2013;35(4):331-5.
5. Rakocevic Stojanovic V, Peric S, Paunic T, Pavlovic S, Cvitan E, Basta I, Peric M, Milicev M, Lavrnic D. Cardiologic predictors of sudden death in patients with myotonic dystrophy type 1. J Clin Neurosci 2013;20(7):1002-6.
6. Peric S, Mandic-Stojmenovic G, Markovic I, Stefanova E, Ilic V, Parojcic A, Misirlic-Dencic S, Ostojic M, Rakocevic-Stojanovic V, Kostic V. Cerebrospinal fluid biomarkers of neurodegeneration in patients with juvenile and classic myotonic dystrophy type 1. Eur J Neurol 2013. doi: 10.1111/ene.12237.
7. Peric S, Sreckov M, Basta I, Lavrnic D, Vujnic M, Marjanovic I, Rakocevic Stojanovic V. Dependent and paranoid personality patterns in myotonic dystrophy type 1. Acta Neurol Scand 2013. doi: 10.1111/ane.12173.

There are several ongoing research projects including investigations of clinical and molecular aspects of the disease.

 

Webinars over Internet

Predvideli smo da se svakog trećeg četvrtka u mesecu, sa početkom u 12 časova, stručnoj i naučnoj neurološkoj javnosti Srbije obrate naši eminentni stručnjaci i predavači sa temama koje su aktuelne i koje zaokupljaju neurološku profesionalnu i istraživačku znatiželju kod nas i u svetu.
Webinari će se održavati u formi kratkih predavanja (20 minuta sa dodatnih 5 minuta za pitanja) u kojoj će auditorijum sačinjavati lekari na specijalizaciji na našoj klinici. Details on this link.

Scientific papers

A list of scientific papers published by the employees of the Neurology clinic since 1981. Complete list can be found here.