CHR Citadelle

This is a prospective, longitudinal, observational study designed to characterize the natural history of Nemaline Myopathy (NM), a rare congenital neuromuscular disorder. The study will follow up to 10 participants of any age with genetically confirmed NM over a period of three years. Data will be collected during routine annual hospital visits and include clinical, motor, respiratory, and quality-of-life assessments. The goal is to improve clinical trial readiness by identifying disease-specific outcome measures and potential biomarkers.

Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder caused by the absence of dystrophin, leading to progressive muscle degeneration. Symptoms typically begin in early childhood and result in loss of ambulation by early adolescence, followed by cardiorespiratory complications. Although early treatment, including corticosteroids and emerging therapies, can slow disease progression, sensitive tools to monitor functional decline-particularly in non-ambulant patients-remain limited.
Current assessments rely primarily on clinical scales and hospital-based evaluations, which may not detect subtle changes or reflect real-life function. Digital outcome measures derived from wearable sensors offer a promising approach for continuous, objective monitoring in daily life. This study aims to evaluate the feasibility, reliability, clinical validity, and sensitivity of digital measures to assess upper limb function in non-ambulant patients with genetically confirmed DMD. The Syde device, previously validated in ambulant DMD patients, will be investigated for its applicability in this population.

The goal of this prospective interventional study is to improve the detection of subclinical chronic Cancer Therapy-Related Cardiovascular Toxicity (CTRCT) and evaluate the added value of advanced cardioechography, ergospirometry, and specific biomarkers in pediatric cancer survivors (aged 2 to 25) who received potentially cardiotoxic treatments (chemotherapy/thoracic radiotherapy). The main questions it aims to answer are:
* Can advanced echocardiography (including strain and myocardial work), ECG, and ergospirometry effectively diagnose earlier subclinical cardiac impairment in this population?
* What is the prevalence of cardiovascular risk factors (including physical activity levels and biological markers like proBNP/troponins)
* Can new genetic or biological markers be identified to help optimizing the detection of CTRCT?
At time of follow-up, if they agree, participants will:
* Complete validated questionnaires regarding quality of life, physical activity, and sedentary behavior.
* Undergo a cardiopulmonary exercise test (ergospirometry) for those aged over 8 years.
* Wear an accelerometer (ActiGraph GT3X) for 7 consecutive days to monitor physical activity.
* Provide an additional blood sample during routine follow-up for the creation of a biobank dedicated to analyzing markers of senescence, fibrosis, apoptosis, and genetic polymorphisms.