Limb girdle muscular dystrophy (LGMD) consist of a heterogeneous group of inherited muscle diseases characterized by progressive muscle weakness at the level of the pelvic and shoulder girdle muscles. Some also have calf hypertrophy, muscle contractures, cardiomyopathy and weakness of the respiratory muscles. The first symptoms may appear in adolescence or young adulthood, but can also occur later in life. LGMD can be inherited either autosomal dominant, autosomal recessive or X-linked. More than 40 genes have already been identified that can cause the disease, often these are genes of important muscle proteins. To date, there is no treatment that positively affects the course of the disease.
A Longitudinal Study of the Natural History of Subjects with Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)
Principal investigator: Prof. Dr. Kristl Claeys
Sub Investigator: Prof. Dr. Liesbeth De Waele
SRP-LGMD-501-NHS: Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects with Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)
The goal of the study is to learn more about the natural progression of 3 specific LGMD’s, namely the sarcoglycanopathies type 2E, 2D, and 2C. No drugs or therapies will be tested during this study. Patients from 4 years old can participate. Several tests are scheduled at regular intervals to document the natural progression: blood and urine sample collections, electrocardiogram (ECG), echocardiography, pulmonary function tests and muscle function tests. Some components are optional and are only performed when the patient consents: MRI of the heart, MRI of the muscles, DEXA scan of the bones and a muscle biopsy.
Samenvatting
Het doel van de SRP-LGMD-501-NHS studie is het natuurlijk verloop van 3 specifieke gordelspier dystrofieën, namelijk de sarcoglycanopathieën type 2E, 2D en 2C in kaart te brengen. Er worden geen medicijnen of therapieën getest gedurende deze studie. Patiënten vanaf 4 jaar kunnen deelnemen. Verschillende onderzoeken worden op regelmatige tijdstippen ingepland om het natuurlijk verloop te documenteren: bloed- en urineonderzoek, elektrocardiogram (ECG), echocardiografie, longfunctietesten en spierfunctietesten. Enkele onderdelen zijn optioneel en worden enkel uitgevoerd wanneer de patiënt hiervoor kiest: NMR van het hart, NMR van de spieren, DEXA scan van de botten en een spierbiopsie.