NCT02728544

Brief Summary

Post exercise irisin levels in PWS patients Obesity, short stature, hypogonadism, hypotonia and impaired cognition are the major clinical features of Prader-Willi syndrome (PWS), a complex neurogenetic disorder due to lack of expression of paternal genes in the chromosomal region 15q11-13. Abnormal body composition with decreased muscle mass and increased fat mass contributes to low resting energy expenditure in PWS. Severe caloric restriction in the range of 800 kcal per day along with daily exercise regimens are needed to prevent weight gain and complications of obesity in this population. Brown adipose tissue (BAT) once thought to be present only in infants, but now known to be present in adults as well, differs from the more abundant white adipose tissue (WAT) by dissipating energy through thermogenesis as a result of increased activity of the mitochondrial uncoupling protein (UCP-1). Recently evidence shows that exercise activates mitochondrial UCP-1 in subcutaneous WAT cells resulting in conversion of WAT to BAT-like adipocytes (Beige or BRITE adipose tissue). Various factors including natriuretic peptides, interleukin-6 and myokines (irisin, fibroblast growth factor 21, and ß-aminoisobutyric acid) appear to mediate the effects of exercising muscle on subcutaneous adipocytes. Decreased amount and/or activity of BAT might contribute to the lower energy expenditure and extreme difficulty in weight-control in PWS. Lower levels or decreased myokine production could result in failure to convert subcutaneous WAT to Beige or BAT-like adipocytes, and therefore minimize or negate the otherwise beneficial metabolic effects of exercise. Direct measurement of peak oxygen uptake in PWS adults show that this population has markedly lower VO2 values compared with normal BMI-matched controls. BAT activity in vivo can be accurately measured only by performing PET/CT scans which include administrating radioactive tracers. For ethical reasons, direct assessment of BAT is not possible for purposes of clinical research in PWS individuals. The investigators propose to study humoral responses to exercise in 16 (8 males) PWS adolescents and young adults and compare results with responses in a similar number of sex, age, and BMI-matched controls. At an initial one-hour meeting study participants will learn to perform aerobic (treadmill) exercise and resistance training under the supervision of an experienced exercise physiologist. Exercise intensity will be assessed by direct measurement of VO2 max. On a different day, a blood sample will be drawn before and immediately at the conclusion of the same exercise regimen. Blood samples will be assayed for irisin, interleukin-6, atrial natriuretic peptide, FGF-21, in addition to glucose, growth hormone, cortisol, norepinephrine, and lactate. The investigators hypothesize that PWS participants will show weaker humoral responses to similar exercise regimens compared to normal control subjects. Data showing lower levels of myokines, such as irisin, following exercise in PWS might suggest that inadequate conversion of WAT to BAT-like adipocytes in subcutaneous adipose tissue results in decreased thermogenesis and abnormally low energy expenditure in this population. Potentially, development of pharmacologic agents which mimic irisin or other myokines by activating UCP-1 and converting WAT to BAT-like adipocytes could offer a new approach to weight-control in PWS individuals.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
32

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Apr 2016

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 17, 2016

Completed
1 month until next milestone

Study Start

First participant enrolled

April 1, 2016

Completed
4 days until next milestone

First Posted

Study publicly available on registry

April 5, 2016

Completed
5 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2016

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2017

Completed
Last Updated

April 5, 2016

Status Verified

March 1, 2016

Enrollment Period

5 months

First QC Date

February 17, 2016

Last Update Submit

April 4, 2016

Conditions

Outcome Measures

Primary Outcomes (1)

  • Number of Participants With Abnormal hormonal response

    30 minutes

Study Arms (2)

Prader Willi syndrome

EXPERIMENTAL

16 (8 males) PWS adolescents and young adults

Other: exercise and blood tests

Obese controls

ACTIVE COMPARATOR

16 - sex, age, and BMI-matched controls

Other: exercise and blood tests

Interventions

At an initial one-hour meeting study participants will learn to perform aerobic (treadmill) exercise and resistance training under the supervision of an experienced exercise physiologist. Exercise intensity will be assessed by direct measurement of VO2 m

Obese controlsPrader Willi syndrome

Eligibility Criteria

Age18 Years - 45 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64)

You may qualify if:

  • Adult with Prader Willi syndrome

You may not qualify if:

  • Inability to safely complete exercise regiment, heart disease or lungs disease

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Prader-Willi Syndrome

Interventions

ExerciseHematologic Tests

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornImprinting DisordersObesityOverweightOvernutritionNutrition DisordersNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Motor ActivityMovementMusculoskeletal Physiological PhenomenaMusculoskeletal and Neural Physiological PhenomenaClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative Techniques

Study Officials

  • Gross Tsur Varda, Prof.

    Shaare Zedek Medical Center

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Gross Tsur Varda, Prof.

CONTACT

Badichi Nava, Research assistant

CONTACT

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
neuropediateic

Study Record Dates

First Submitted

February 17, 2016

First Posted

April 5, 2016

Study Start

April 1, 2016

Primary Completion

September 1, 2016

Study Completion

March 1, 2017

Last Updated

April 5, 2016

Record last verified: 2016-03

Data Sharing

IPD Sharing
Will not share