Clinical trial NCT03875105: Daily Living Activities and Exercise Capacity in Lipid Storage Diseases
Official title: The Investigation of Daily Living Activities and Exercise Capacity in Lipid Storage Diseases
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Lipid Storage Disease
Keywords: exercise capacity
activities of daily living
Lead sponsor: Istanbul University
Sponsor class: OTHER
Collaborators: name: Biruni University
First posted: 2019-03-14
Enrollment: 25
Sex: ALL
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 25 patients who were diagnosed with Lipid Storage Disease at Istanbul University Istanbul Medical Faculty Neurology and Chest Diseases Departments will be invited to the study. The study will be continued in Istanbul University, Istanbul Faculty of Medicine, Department of Chest Diseases.

Brief summary: Lipid Storage Diseases (LSD) is a group of metabolic diseases that are manifested by exercise intolerance or muscle weakness, sometimes accompanied by systemic findings, which develop in some stages of muscle contraction due to necessary lipid transfer or destruction pathways. Exercise intolerance in LSD can limit not only physical activity but also daily activities. In the literature, no study evaluated the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.

Detailed description: Pulmonary functions are affected negatively in Lipid Storage Diseases (LSD). It was shown that respiratory muscle strength and peak cough flow decreased in these cases. Other respiratory system problems can be listed as; diaphragmatic dysfunction, hypoxemia, and hypercapnia. Routine evaluation of respiratory function in LSD is recommended. A limited number of studies have shown that exercise tolerance is limited by the blockage of fat oxidation on the basis of muscle weakness and fatigue in LSD. Although the assessment of exercise capacity is also an important indicator of heart-lung capacity monitoring, exercise capacity is not routinely measured in patients with LSD. Exercise intolerance can limit not only physical activity but also daily activities. In the literature, the investigator's did not find any study evaluating the activities of daily living in patients with LSD. The aim of this study was to investigate the effect of exercise capacity and daily living activities on the clinical features of LSD patients.

Eligibility criteria: Inclusion Criteria:

* Being diagnosed with Lipid storage disease clinically and histopathologically.

Exclusion Criteria:

* Severe pulmonary parenchymal disease,
* Cardiac problems
* Renal or hepatic dysfunction
* Uncontrolled hypothyroidism
* Acute infection
* Malignancy

Primary outcomes:
measure: 6 minutes walking test
timeFrame: 1 day
Secondary outcomes:
measure: Activity limitation (ACTIVLIM) questionnaire
timeFrame: 1 day
measure: Rivermead mobility index
timeFrame: 1 day
measure: Hand held dinamometer
timeFrame: 1 day
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Istanbul University
Study officials:
affiliation: Istanbul University - Cerrahpasa
name: Goksen Kuran Aslan, Assoc.Prof.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Bingol Z, Tekce HD, Sagcan G, Serdaroglu P, Kiyan E. Pulmonary functions and sleep-related breathing disorders in lipid storage disease. Sleep Breath. 2018 Dec;22(4):1137-1142. doi: 10.1007/s11325-018-1647-1. Epub 2018 Mar 1.