Daily Living Activities and Exercise Capacity in Lipid Storage Diseases

Not yet recruiting

• Conditions: Lipid Storage Disease

• Registration Number: NCT03875105
• Lead Sponsor: Istanbul University

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.

Study Timeline

• Study First Submitted: 2019-03-11
• Study First Submitted QC: 2019-03-13
• Study First Posted: 2019-03-14
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-15
• Last Update Posted: 2023-08-16
• Study Start: 2023-09-02
• Primary Completion: 2024-09-04
• Study Completion: 2024-11-05

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 25

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
6 minutes walking test	1 day	Exercise capacity will be evaluated with 6 minutes walking test

Secondary Outcome Measures

Name	Time	Method
Rivermead mobility index	1 day	Mobility will be evaluated with Rivermead mobility index. The questionnaire consists of 14 questions. Minimum score is 0, maximum score is 15. Higher scores indicate better conditions.
Activity limitation (ACTIVLIM) questionnaire	1 day	Activities of daily living will be evaluated Activlim questionnaire. The questionnaire is consists of 22 questions. Minimum score is 0 and total score is 88. Higher scores indicate worse conditions.
Hand held dinamometer	1 day	Hand held dinamometer will be used for the measurement of upper and lower muscle strength.

Trial Locations

Locations (1)

Istanbul University; 🇹🇷 Istanbul, Turkey