Improvement of physical abilities in patients with cystinosis

INTERVENTION: The patients will be divided into two age groups depending on their age at the time of randomization. Due to the very rare underlying disease, a matched‐pair design was chosen as the study design. Patients will be matched according to their age at the time of randomization, se Xand major previous surgeries (kidney transplant, axis corrections of lower legs) and randomly assigned to an intervention group (IG, training on vibration platforms) or a control group (CG, training with vibration dumbbells). Randomization will be performed before the enrollment of all participants in the study with a small self‐written R ‐ programme. The training concept is based on the established approach for the rehabilitation of children “Auf die Beine” developed by UniReha Cologne and on the official recommendations for the use of a vibration platform (4,5). One group (IG) trains while standing on a Galileo vibration platform, the other group (CG) exercises the arms in a sitting position using a vibration dumbbell (Galileo‐Mano). Both groups train according to a fixed training schedule which involves 10 short training sessions in a week (maximum 2 per day). Patients in the IG will initially undergo a one‐day intensive training course and will receive regular supervision by the responsible physiotherapists during the training phase (once a month, more if required). Both the training program with the Galileo vibration platforms (IG) as well as the one with the dumbbells (CG) are tailored to the disease. The training program for the IG comprises four basic exercises: • deep squats with attention to the correct leg axis • heel rise (stand on toes and forefeet) • pu CONDITION: Improvement of cardiorespiratory performance and muscle strength in patients with cystinosis ; Genetic Diseases PRIMARY OUTCOME: ; At baseline, 3, 6, and 12 months:; 1. Muscle function tests (power & strength) using Leonardo Mechanograph (Novotec) (Measurement of ground reaction forces) with s2LJ (single two‐legged jumps); 2. HRT (Heel‐Rise test); 3. m1LH (multiple one‐legged hopping on the forefoot with the knee outstretched); 4. Grip strength; 5. 6‐minute walk test were performed; SECONDARY OUTCOME: ; Clinical parameters at baseline, 3, 6, and 12 months:; 1. Blood pressure (sphygmomanometer); 2. Pulse oximetry; 3. Quality of life and wellbeing (children and adolescents: KINDL‐R questionnaire, adults SF‐36 questionnaire); 4. Clinical (orthopedic surgery, fractures) and laboratory assessment (kidney function, end stage renal disease, dialysis, transplantation, cystine score) physiotherapeutic and orthopedic examination at baseline and 12 months only; INCLUSION CRITERIA: 1. Confirmed diagnosis of infantile nephropathic cystinosis 2. Prepubertal patients from 6 to 13 years of age or from the age of 18 3. Consent of the patient (18 years and older) or legal representative (for minors)