The Effect of Exercise on Muscle Dysfunction in Cystinosis

NCT04071548 | Completed

• 1 other identifier: 46941
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief Summary

Classification of activity tolerance is of importance in chronic progressive myopathies, not only to better understand functional implications of the disease state itself, but also for purposes of exercise prescription for health maintenance. Maximal exercise testing has been considered as the gold standard of assessing maximal aerobic capacity, however testing in individuals with neuromuscular disease is often limited due to pain, activity intolerance, musculoskeletal impairments, fatigue and other such related variables. Often, submaximal exercise testing can overcome some of these obstacles, and as such, is used frequently in the clinical environment. Non-ambulatory exercise testing utilizing an arm ergometer specifically has not been studied as heavily, especially in those with progressive myopathies. For this study, we will use maximal aerobic capacity testing for individuals with Cystinosis Myopathy utilizing a bike ergometer to allow testing of individuals regardless of their ambulatory status.

Conditions

Cystinosis

Outcome Measures

Primary Outcomes (1)

• VO2 max testing

  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.

  30-45 minutes

Secondary Outcomes (4)

• Biodex Quantitative muscle testing

  30 minutes

• Timed up and Go (TUG) Test

  5 minutes

• Activity Monitor

  24 hours

• Activity Questionnaire

  5 minutes

Study Arms (1)

HIIT Exercise

EXPERIMENTAL

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

Other: HIIT Exercise

Interventions

HIIT Exercise OTHER

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

Also known as: High Intensity Interval Training

HIIT Exercise

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• \>=18 years -\<= 60 years male or female with documented diagnosis of Cystinosis

You may not qualify if:

• All Cystinosis participants:
• female subject who is known or suspected to be pregnant
• excluded for other illnesses or medications that may impact growth, nutritional status, development, or bone health unrelated to cystinosis
• Exercise intervention:
• exercise limitation due to pre-existing heart disease
• individuals on medications that limit heart rate (beta adrenergic blockers)
• unable to plantar flex or dorsiflex ankle against resistance
• unable to use pedal ergometer

Sponsors & Collaborators

• Stanford University: lead

Study Sites (1)

Stanford University

Palo Alto, California, 94304, United States

Location

Related Publications (8)

• Tsampalieros A, Gupta P, Denburg MR, Shults J, Zemel BS, Mostoufi-Moab S, Wetzsteon RJ, Herskovitz RM, Whitehead KM, Leonard MB. Glucocorticoid effects on changes in bone mineral density and cortical structure in childhood nephrotic syndrome. J Bone Miner Res. 2013 Mar;28(3):480-8. doi: 10.1002/jbmr.1785.

  PMID: 23044926 BACKGROUND

• Hafstad AD, Boardman NT, Lund J, Hagve M, Khalid AM, Wisloff U, Larsen TS, Aasum E. High intensity interval training alters substrate utilization and reduces oxygen consumption in the heart. J Appl Physiol (1985). 2011 Nov;111(5):1235-41. doi: 10.1152/japplphysiol.00594.2011. Epub 2011 Aug 11.

  PMID: 21836050 BACKGROUND

• Hood MS, Little JP, Tarnopolsky MA, Myslik F, Gibala MJ. Low-volume interval training improves muscle oxidative capacity in sedentary adults. Med Sci Sports Exerc. 2011 Oct;43(10):1849-56. doi: 10.1249/MSS.0b013e3182199834.

  PMID: 21448086 BACKGROUND

• Milanovic Z, Sporis G, Weston M. Effectiveness of High-Intensity Interval Training (HIT) and Continuous Endurance Training for VO2max Improvements: A Systematic Review and Meta-Analysis of Controlled Trials. Sports Med. 2015 Oct;45(10):1469-81. doi: 10.1007/s40279-015-0365-0.

  PMID: 26243014 BACKGROUND

• Jelleyman C, Yates T, O'Donovan G, Gray LJ, King JA, Khunti K, Davies MJ. The effects of high-intensity interval training on glucose regulation and insulin resistance: a meta-analysis. Obes Rev. 2015 Nov;16(11):942-61. doi: 10.1111/obr.12317.

  PMID: 26481101 BACKGROUND

• Helou K, El Helou N, Mahfouz M, Mahfouz Y, Salameh P, Harmouche-Karaki M. Validity and reliability of an adapted arabic version of the long international physical activity questionnaire. BMC Public Health. 2017 Jul 24;18(1):49. doi: 10.1186/s12889-017-4599-7.

  PMID: 28738790 BACKGROUND

• Silsbury Z, Goldsmith R, Rushton A. Systematic review of the measurement properties of self-report physical activity questionnaires in healthy adult populations. BMJ Open. 2015 Sep 15;5(9):e008430. doi: 10.1136/bmjopen-2015-008430.

  PMID: 26373402 BACKGROUND

• Wetzsteon RJ, Kalkwarf HJ, Shults J, Zemel BS, Foster BJ, Griffin L, Strife CF, Foerster DL, Jean-Pierre DK, Leonard MB. Volumetric bone mineral density and bone structure in childhood chronic kidney disease. J Bone Miner Res. 2011 Sep;26(9):2235-44. doi: 10.1002/jbmr.427.

  PMID: 21590737 RESULT

MeSH Terms

Conditions

Cystinosis

Interventions

High-Intensity Interval Training

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Physical Conditioning, Human; Exercise; Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Effect of exercise on muscle dysfunction in cystinosis

Model Details: Single site interventional exercise study

Study Record Dates

• First Submitted: August 19, 2019
• First Posted: August 28, 2019
• Study Start: January 26, 2023
• Primary Completion: May 15, 2024
• Study Completion: May 15, 2024
• Last Updated: October 2, 2024

Record last verified: 2024-09

Locations

US (1)