Dr. Habil. Joanna Kwiatkowska

The project leader – Dr. Habil. Joanna Kwiatkowska, the head of the Department of Paediatric Cardiology and Congenital Heart Defects GUMed: Medical University of Gdańsk -MUG

Duchenne muscular dystrophy (DMD) is inherited in an X-linked recessive pattern and is characterized by the progressive degeneration of not only skeletal and respiratory muscles but also the heart muscle. Due to the specificity of the way the heart muscle is affected in DMD, the cardiological care of DMD patients plays a key role in improvement in the prognosis and it comprises regular evaluation that includes an interview, a medical examination and additional exams such as a resting ECG, a 24h Holter monitoring and echocardiography. According to Birnkrant and all, the part of the aforementioned exams should be conducted every year. As cardiovascular magnetic resonance imaging (CMR) allows a comprehensive assessment of fibroblastic foci (LGE) with unequalled levels of reproducibility and it is independent of the acoustic window, the exam is becoming increasingly important. Such complex care, in line with the most recent medical knowledge, has been provided to over 100 patients with DMD at the University Clinical Centre in Gdańsk for years.

The project aim is to evaluate the efficacy of the early metoprolol treatment (a beta-blocker drug class) in DMD patients. The project has been designed as a prospective randomized double blind, placebo controlled study with metoprolol as an active substance. The project will comprise circa 140 patients with genetically confirmed DMD aged 8-18 years at the time of being found eligible for the project. The follow-up time is up to 5 years. After the patient is found eligible for the project on the basis of screening and qualification tests, they will randomly be assigned either to the group receiving a drug treatment or the group receiving placebo and the first phase of the project will begin. In the case of patients that have not been treated with angiotensin-converting enzyme inhibitor drugs (ACEi; e.g. perindopril, enalapril, ramipril, lisinopril, captopril and others) or angiotensin II receptor blockers (ARB; e.g. losartan, valsartan, candesartan and others), a one-month phase of the drug administration will be introduced after which the principal project phase, common to all the patients, that is, being treated with the substance prepared especially for the project needs in the indistinguishable form of either drug or placebo will take place.

As part of the project, diagnostic tests will be carried out periodically to assess the patient’s condition and disease progression. In the event of adverse reactions, patients will be provided with additional follow-up visits at the University Clinical Centre in Gdańsk. The project will be executed in this way till the 30th month, which will be calculated from the moment the first patient entered the project. This is when the first efficacy analysis will be performed. The effect of this assessment may result in either the treatment continuation without changing the protocol or, in the case of positive effects on patients’ health, in covering all patients with treatment and the further observation of the study group. Such implementation of the project may have a significant impact on updating subsequent care guidelines for patients with DMD.