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Energy Balance in Huntington's Disease. A Multidisciplinary Study Approach for a Complex Problem (BEHD-EM)

Completed
Conditions
Huntington Disease
Interventions
Other: observational tests in face-to-face visit
Registration Number
NCT05250323
Lead Sponsor
Hospital Universitario de Burgos
Brief Summary

The study was conducted at the University Isabel I, Burgos in collaboration with the Hospital Universitario Burgos, Spain, through the creation of a multidisciplinary research team including graduates in physical activity and sports sciences, dietitians-nutritionists, neurologists and occupational therapists. To carry out this study: 1) the investigators used new technologies, specifically, small wearable or wearable devices available to the population. These devices measure their daily behaviour and estimate aspects such as energy expenditure, validated both in healthy participants and in participants with neurodegenerative diseases such as Parkinson's disease, but not in HD; 2) the investigators included a consecutive sample of patients with HD ; 3) the investigators performed the experimental study at the the laboratory for Exercise Physiology, Health and Quality of Life at the Isabel I University.

The hypothesis proposed by this study are the following: 1) Patients with HD who present an adequate energy balance caused by healthier lifestyles (active lifestyles and healthy eating) will present a better functional capacity, quality of life and therefore both less dependency; 2) HD patients with a balanced energy balance maintain adequate body composition (muscle, fat); 3) Adequate body composition is associated with better functional capacity in HD patients.

Detailed Description

In the last decade, numerous studies have been published showing how epigenetic (environmental) factors can modify the clinical manifestations of diseases of genetic origin. Specifically, epidemiological studies have observed that physical exercise delays the onset and slows down the progression of neurodegenerative diseases (dementia, Parkinson's disease, HD), by producing, between the different mechanisms, greater plasticity of the different neuronal circuits. Another environmental factor such as nutrition has also been highlighted by numerous authors, highlighting the role of the Mediterranean diet in delaying the onset, especially in Parkinson's disease, as the phenolic components of olive oil produce an inhibition of the Pathological aggregation of modified alpha synuclein. On the contrary, it has been seen that an energy deficit at the cellular level accelerates the neurodegeneration process, shortening survival in different animal models.

To maintain an adequate energy balance, it is required that the energy expenditure produced by physical activity (GAF), plus the expenditure produced by the maintenance of the different organs: energy expenditure at rest (GAR) and thermogenesis, is similar to the input of energy produced by the oxidation of macronutrients from food intake. In HD, it is believed that this energy balance is not adequate, either due to the decrease in food intake (very frequent when there are swallowing problems), and the decrease in physical activity produced by alterations in mobility, or by structural damage (hypothalamic, mitochondrial) produced by the neurodegeneration process per se. When the energy balance is negative (energy expenditure\> caloric intake), due to a decrease in intake or due to sustained involuntary physical activity (chorea), it can lead to the use of other energy substrates such as adipose tissue and muscle, triggering sarcopenia, cachexia, and ultimately, accelerating the neurodegeneration process. Weight loss and a low body mass index (BMI) in patients with neurodegenerative diseases lead to a greater development of neurological symptoms, while a high food intake has been associated with a more rapid progression in the symptoms of these patients. For all these reasons, it seems that nutrition plays a determining role, the dietary and nutritional analysis being fundamental.

To date, there are very few studies on energy balance in neurodegenerative diseases, addressing it from a comprehensive point of view and analysing each of its contributing components (energy expenditure-caloric intake). A better knowledge of the energy balance in HD may lead to the development of non-pharmacological, easily accessible and cost-effective therapeutic strategies such as lifestyle modifications, through adequate physical activity and nutritional intake.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
30
Inclusion Criteria
  • Older than 18 years-old
  • Genetic confirmation of Huntington's disease
  • Symptomatic (motor manifestations with a score greater than 4 on the Unified HD scale)
  • Walk with minimal support
  • Participate in Enroll study
  • Non-gene carriers, family relatives
Exclusion Criteria
  • Sensory deficits or other systemic diseases which according to the Investigator judgment may interfere with the execution of the study

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Controlobservational tests in face-to-face visitAge, gender-matched non-gene carriers family relatives
Caseobservational tests in face-to-face visitPatients with genetic confirmation of Huntington's disease, symptomatic (motor manifestations with a score greater than 4 on the Unified HD scale), who can walk with minimal support, without sensory deficits or other systemic diseases an Investigator judgment that may interfere with the execution of the study, coming from the Enroll study.
Primary Outcome Measures
NameTimeMethod
Measurement of energy expenditure due to physical activity45 minutes

using a wearable device (Fitbit Charge), which allows quantification in a valid and reliable way, in patients with HD

Measurement of energy expenditure at rest10 minutes

by indirect calorimetry recording respiratory exchange (Medisoft Ergocard, Medisoft Group, Sorinnes, Belgium)

Determination of caloric intake30 minutes

by registering eating habits (SUN food frequency questionnaire and a 3-day food diary)

Bone densitometry (DXA)10 minutes

Determination of body composition

Secondary Outcome Measures
NameTimeMethod
Determination of lifestyle and weekly energy expenditure7 days

for this the participants will wear the device for 7 consecutive days

Validation of the wearable comparing the results with a gold standard45 minutes

using indirect calorimetry and accelerometery (ActiGraph wGT3X-BT) during activities of various kinds and intensity (walking at different speeds and slopes) on a treadmill (h / p / cosmos pulsar, h / p / cosmos sports and medical GMBH, Nussdorf-Traunstein, Germany) and activities of daily living together with pedalling on a cycle ergometer

Determination of the incidence of thermogenesis on energy expenditure and on the appearance of fatigue2 hours

by recording the central and peripheral temperature (VitalSense, Phillips Respironics, Bend, OR, USA).

Trial Locations

Locations (1)

Hospital Universitario de Burgos

🇪🇸

Burgos, Spain

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