All individuals recruited in exercise portion will be on an active exercise intervention

Cystinosis

HIIT exercise bike protocol
3 minute warm up
Intervals of 10x 60 sec of 80-95% of heart rate reserve Heart rate reserve = Max Heart rate - Resting Heart rate § Max heart rate = 220-age
10x60 second Recovery period
5 minute cool-down

HIIT Exercise

Stanford University

The Effect of Exercise on Muscle Dysfunction in Cystinosis

Patients will undergo exercise stress testing using a recumbent cycle ergometry pre and post exercise intervention: Baseline and after week 12. We will use a ramping protocol to maintain a pedal cadence between 50-80RPM which will yield progressive workload increments of 5-10 Watts. Participants will be continuously monitored for any discomfort or pain that they may experience. Maximal effort will be verified as volitional fatigue (OMNI Scale≥8, the inability to maintain pedal cadence at 50 rpm for 10 or more seconds, and/or respiratory exchange ratio (RER; carbon dioxide production/oxygen uptake)>1.0). Standard ACSM exercise termination criteria will be applied. Measurements will end immediately following exercise. Using this method, peak oxygen uptake (VO2peak) will be identified as the highest oxygen uptake measured during exercise.

Biodex isokinetic dynamometer is used for testing strength throughout an entire arc of range of motion. It is commonly used to assess strength and well validated in the orthopedic field. Patients will undergo testing of both knee extensors and flexors strength as part of this protocol. Each participant will be tested in a seated position with hip flexion at 110-125 degrees; stabilization straps will be applied at the trunk and thighs. The resistance pad will be placed proximally at the medial malleolus. Range of motion at the knee will be set from 0-90 degrees. Vocal encouragement will be provided during the test and standardized for consistency between measures. Average power and H/Q ratios will be calculated and reported by the Biodex.

This is a functional timed test requiring the participant to get up from a chair walk 3 meters and sit back down in the chair. It has been used to asses function and balance.

We will use an activity monitor to be worn by the participant throughout the trial. For this study, participants will be issued fitbit that will estimate characteristics of physical activity. The activity monitor will help determine adherence to the exercise intervention via monitoring of the clinical research team for increased exercise at times and frequencies indicated by the protocol. Additionally, this will give us a measurable tool to assess possible changes in activity while on the study. We will compare baseline measures to changes at the end of the 12 week intervention program.

We will conduct a the International Physical Activity Questionnaire (IPAQ). It is developed to assess physical activity and sedentary lifestyle among people 15-69 years old. There are 5 activity domains that should be answered based on activity in the last 7 days. It has 3 categorical levels of scoring with 1 being low and 3 high. It will be provided to all participants before the start of the intervention, 8 weeks and 12 weeks. This questionnaire will help determine any changes in behavior or activity during the exercise intervention period. The questionnaire asks about amount of time the participant participates in organized sports, gym, outdoor activities, and physical exercise. This activity monitor has been used in a Cystinosis natural history study.

Richard Reimer

Effect of exercise on muscle dysfunction in cystinosis

Single site interventional exercise study

Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Cystinosis diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Cystinosis disease will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Renal Fanconi Syndrome

Photophobia

Hypophosphatemia

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

The goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

cystinosis/trötthet

The Effect of Exercise on Muscle Dysfunction in Cystinosis

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

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