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Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions (FSS-EDICT I)

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Freeman-Sheldon Research Group, Inc.
Sponsor:
Information provided by (Responsible Party):
Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier:
NCT01306994
First received: February 26, 2011
Last updated: October 14, 2014
Last verified: October 2014
History of Changes
  Purpose

The hypotheses of the present study of Freeman-Sheldon syndrome (FSS) and related conditions are: (1) that exercise capacity is lower in FSS patients versus normal controls, and the lower exercise capacity is due to changes in the muscles' normal structure and an inability of sufficient quantity of the energy molecule to bind to muscle; (2) this muscle problem reduces amount of air that can get in the lung and amount of oxygen carried in the blood, which then has the effect of increasing heart and respiration rates, blood pressure, and deep body temperature, and produces muscle rigidity; (3) the events noted above, when they occur during cardiac stress testing, are related to a problem similar to malignant hyperthermia (MH) reported in some muscle disorders without use of drugs known to cause MH. MH (a life-threatening metabolic reaction that classically is triggered when susceptible persons receive certain drugs used in anaesthesia.


Condition Intervention
Arthrogryposis
Craniofacial Abnormalities
 Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
Procedure: Physiological Stress Test
Other: Functional Enquiry Form
Other: Strength, Joint ROM, Girth and Length Measurements
Other: Study Physical Examination
Other: Observational Gait Analysis
Other: Mental Health Interview

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Freeman-Sheldon Research Group, Inc.:

Primary Outcome Measures:
  • Heart rate [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased heart rate, measured electrocardiographically, is used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Oxygen Consumption [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Oxygen consumption, measured by ventilation of expired oxygen, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.


Secondary Outcome Measures:
  • Non-Invasive Arterial Blood Pressure [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased non-invasive arterial blood pressure rate is used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Spirometry (Forced Expiratory Volume/Forced Vital Capacity) [ Time Frame: Evaluated before and after exercise, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Decreased ability of the lungs to move air, measured by forced expiration, is used as an index of strain imposed by Freeman-Sheldon syndrome and related conditions.

  • Saturation of Peripheral Oxygen [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Decreased saturation of peripheral oxygen, measured by pulse oxymetry, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Respiratory Rate [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased respiratory rate, measured by plethysmograph, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Heart Rhythm [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Heart rhythms, monitored by electrocardiograph, are used as an index of cardiovascular strain imposed by needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Core Temperature [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased core temperature, measured as oesophageal temperature, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon, related conditions, and malignant hyperthermia.

  • Adenosine Triphosphate [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: No ]
    Decreased adenosine triphosphate, measured as capillary blood level, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Perceived Exertion [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: No ]
    Increased perceived exertion, measured using the Borg scale, are used as an index of fatigue.

  • Muscle Rigidity [ Time Frame: Evaluated while exercising, during second of two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased muscle rigidity, evaluated by clinical examination and patient self-report, is used as an indicator of malignant hyperthermia, when increased core temperature, heart rate, and respiratory rate are present.

  • Functional and Health-Related Quality of Life [ Time Frame: Evaluated in first of two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: No ]
    Functional and health-related quality of life, measured with the Medical Outcomes Trust Short Form (36) Health Survey (SF-36), is used as a general prediction of expected physical exercise capacity.

  • Lactic Acid [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Lactic acid, measured by capillary blood level, is used as a measure of physiological strain imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.

  • Glucose [ Time Frame: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Glucose, measured by capillary blood level, is used as an index of physiological strain, together with lactic acid and adenosine triphosphate capillary blood levels, imposed by metabolic needs during exercise and exaggerated by Freeman-Sheldon and related conditions.


Other Outcome Measures:
  • Body Composition [ Time Frame: Evaluated before exercise, during two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: No ]
    Body composition, measured by calliper, together with direct indices of physiological strain, is used to determined metabolic disease burden of Freeman-Sheldon syndrome and related conditions.

  • Hand Grip Strength [ Time Frame: Evaluated during the first of two study visits ] [ Designated as safety issue: No ]
    Decreased hand grip strength, measured by a hand dynamometer, is used as an index of physiological strain imposed by Freeman-Sheldon and related conditions


Biospecimen Retention:   None Retained

Blood samples will be taken but no retention is expected.
Estimated Enrollment: 20
Study Start Date: February 2011
Groups/Cohorts Assigned Interventions
Syndrome Group
Individuals with Freeman-Sheldon, Sheldon-Hall, distal arthrogryposis type 1, or distal arthrogryposis type 3
 Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
Completed during the clinical examination and exercise test by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest and during exercise.
Other Names:
  • ATP levels
  • ATP blood levels
  • adenosine triphosphate test
  • blood test for ATP
  • blood test for adenosine triphosphate
  • ATP blood test
  • adenosine triphosphate blood test
  • ATP test
  • glucose test
  • glucose blood test
  • sugar test
  • lactic acid levels
  • lactic acid blood test
  • lactate blood test
  • lactate levels
Procedure: Physiological Stress Test
During exercise, heart and lung function are monitored for changes caused by exercise, which increases the body's need for oxygen and puts extra demands on the heart. In this study, testing is done using a cycle ergometer and conducted according to the standardised exponential exercise protocol (STEEP).
Other Names:
  • stress test
  • graded exercise test
  • maximal exercise test
  • VO2 max test
  • maximal oxygen uptake test
  • exercise tolerance test
  • exercise stress test
Other: Functional Enquiry Form
Evaluated before clinical examination, it is a checklist of medical problems.
Other Names:
  • FSRG Form 08
  • health history
  • review of systems
  • systems review
  • medical history
  • personal health history
Other: Strength, Joint ROM, Girth and Length Measurements
Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.
Other Names:
  • SF 527
  • Standard Form 527
  • musculoskeletal examination
  • musculoskeletal exam
  • musculoskeletal evaluation
  • musculoskeletal assessment
  • extremity examination
  • extremity evaluation
  • extremity assessment
  • extremity exam
Other: Study Physical Examination
Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination (minus breasts, genitalia, or rectum).
Other Names:
  • FSRG Form 14
  • physical examination
  • physical evaluation
  • physical assessment
  • medical examination
  • medical evaluation
  • medical assessment
  • full medical examination
  • full medical evaluation
  • full medical assessment
  • periodic medical examination
  • periodic medical evaluation
  • periodic medical assessment
  • annual medical examination
  • annual medical evaluation
  • annual medical assessment
  • yearly medical examination
  • yearly medical evaluation
  • yearly medical assessment
  • full physical examination
  • full physical evaluation
  • full physical assessment
  • complete physical examination
  • complete physical evaluation
  • complete physical assessment
  • yearly physical examination
  • yearly physical evaluation
  • yearly physical assessment
  • annual physical examination
  • annual physical evaluation
  • annual physical assessment
  • periodic physical examination
  • periodic physical evaluation
  • periodic physical assessment
  • screening physical examination
  • screening physical evaluation
  • screening physical assessment
  • screening physical
  • physical
  • periodic physical
  • annual physical
  • annual check-up
  • annual check up
  • yearly physical
  • yearly check up
  • yearly check-up
  • check up
  • check-up
  • medical check-up
  • medical check up
  • annual medical check-up
  • annual medical check up
  • yearly medical check-up
  • yearly medical check up
  • periodic medical check-up
  • periodic medical check up
  • periodic health evaluation
  • periodic health assessment
  • annual health evaluation
  • annual health assessment
  • yearly health evaluation
  • yearly health assessment
  • screening health evaluation
  • screening health assessment
  • screening medical examination
  • screening medical evaluation
  • screening medical assessment
  • med check
Other: Observational Gait Analysis
Completed during the clinical examination by researchers, it is a structured approach to evaluation of a person's walking.
Other Names:
  • FSRG 10
  • gait analysis
  • functional gait analysis
Other: Mental Health Interview
Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.
Other Names:
  • psychiatric examination
  • psychiatric evaluation
  • psychiatric assessment
  • psychiatric interview
  • diagnostic mental health examination
  • diagnostic mental health evaluation
  • diagnostic mental health assessment
  • diagnostic psychiatric examination
  • diagnostic psychiatric evaluation
  • diagnostic psychiatric assessment
  • diagnostic psychiatric interview
  • intake examination
  • intake evaluation
  • intake assessment
  • intake interview
  • mental health evaluation
  • mental health examination
  • mental health assessment
  • mental health interview
  • psychological examination
  • psychological evaluation
  • psychological assessment
  • psychological interview
  • psychological intake examination
  • psychological intake evaluation
  • psychological intake assessment
  • psychological intake interview
Control Group
Healthy individuals
 Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
Completed during the clinical examination and exercise test by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest and during exercise.
Other Names:
  • ATP levels
  • ATP blood levels
  • adenosine triphosphate test
  • blood test for ATP
  • blood test for adenosine triphosphate
  • ATP blood test
  • adenosine triphosphate blood test
  • ATP test
  • glucose test
  • glucose blood test
  • sugar test
  • lactic acid levels
  • lactic acid blood test
  • lactate blood test
  • lactate levels
Procedure: Physiological Stress Test
During exercise, heart and lung function are monitored for changes caused by exercise, which increases the body's need for oxygen and puts extra demands on the heart. In this study, testing is done using a cycle ergometer and conducted according to the standardised exponential exercise protocol (STEEP).
Other Names:
  • stress test
  • graded exercise test
  • maximal exercise test
  • VO2 max test
  • maximal oxygen uptake test
  • exercise tolerance test
  • exercise stress test
Other: Functional Enquiry Form
Evaluated before clinical examination, it is a checklist of medical problems.
Other Names:
  • FSRG Form 08
  • health history
  • review of systems
  • systems review
  • medical history
  • personal health history
Other: Strength, Joint ROM, Girth and Length Measurements
Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.
Other Names:
  • SF 527
  • Standard Form 527
  • musculoskeletal examination
  • musculoskeletal exam
  • musculoskeletal evaluation
  • musculoskeletal assessment
  • extremity examination
  • extremity evaluation
  • extremity assessment
  • extremity exam
Other: Study Physical Examination
Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination (minus breasts, genitalia, or rectum).
Other Names:
  • FSRG Form 14
  • physical examination
  • physical evaluation
  • physical assessment
  • medical examination
  • medical evaluation
  • medical assessment
  • full medical examination
  • full medical evaluation
  • full medical assessment
  • periodic medical examination
  • periodic medical evaluation
  • periodic medical assessment
  • annual medical examination
  • annual medical evaluation
  • annual medical assessment
  • yearly medical examination
  • yearly medical evaluation
  • yearly medical assessment
  • full physical examination
  • full physical evaluation
  • full physical assessment
  • complete physical examination
  • complete physical evaluation
  • complete physical assessment
  • yearly physical examination
  • yearly physical evaluation
  • yearly physical assessment
  • annual physical examination
  • annual physical evaluation
  • annual physical assessment
  • periodic physical examination
  • periodic physical evaluation
  • periodic physical assessment
  • screening physical examination
  • screening physical evaluation
  • screening physical assessment
  • screening physical
  • physical
  • periodic physical
  • annual physical
  • annual check-up
  • annual check up
  • yearly physical
  • yearly check up
  • yearly check-up
  • check up
  • check-up
  • medical check-up
  • medical check up
  • annual medical check-up
  • annual medical check up
  • yearly medical check-up
  • yearly medical check up
  • periodic medical check-up
  • periodic medical check up
  • periodic health evaluation
  • periodic health assessment
  • annual health evaluation
  • annual health assessment
  • yearly health evaluation
  • yearly health assessment
  • screening health evaluation
  • screening health assessment
  • screening medical examination
  • screening medical evaluation
  • screening medical assessment
  • med check
Other: Observational Gait Analysis
Completed during the clinical examination by researchers, it is a structured approach to evaluation of a person's walking.
Other Names:
  • FSRG 10
  • gait analysis
  • functional gait analysis
Other: Mental Health Interview
Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.
Other Names:
  • psychiatric examination
  • psychiatric evaluation
  • psychiatric assessment
  • psychiatric interview
  • diagnostic mental health examination
  • diagnostic mental health evaluation
  • diagnostic mental health assessment
  • diagnostic psychiatric examination
  • diagnostic psychiatric evaluation
  • diagnostic psychiatric assessment
  • diagnostic psychiatric interview
  • intake examination
  • intake evaluation
  • intake assessment
  • intake interview
  • mental health evaluation
  • mental health examination
  • mental health assessment
  • mental health interview
  • psychological examination
  • psychological evaluation
  • psychological assessment
  • psychological interview
  • psychological intake examination
  • psychological intake evaluation
  • psychological intake assessment
  • psychological intake interview

  Show Detailed Description

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

Patients world-wide are welcome, so-long as they have a qualifying diagnosis. Healthy controls are welcome world-wide, as well.

Criteria

Syndrome Group Inclusion Criteria:

  • Freeman-Sheldon syndrome,
  • Sheldon-Hall syndrome,
  • Distal arthrogryposis type 1, or
  • Distal arthrogryposis type 3
  • Deceased patients with enough clinical information available to satisfy study requirements

Syndrome Group Exclusion Criteria:

  • Individuals not confirmed to have a condition under study
  • Deceased patients without enough clinical information available to satisfy study requirements
  • Patients with other anomalies, not having one of the above syndromes
  • Patients or parents of minor children not willing to give consent
  • Mature female patients who are pregnant or breast-feeding will be reassessed for consideration for enrolment.
  • Mature female patients who are currently experiencing menses will be reassessed for consideration for enrolment.
  • Patients with active, acute comorbid illness will be reassessed for consideration for enrolment.

Control Group Inclusion Criteria:

  • Subjects must be healthy and free of active disease.
  • Subject or parent of minor child must be willing to give consent.
  • Subjects must fall within the age-bracket to be matched with a Syndrome Group patient already screened and enroled in the study
  • Subjects must be non-tobacco users and non-drinkers.

Control Group Exclusion Criteria:

  • Subjects exceptional for their age in body weight, stature, or habitus according to commonly accepted guidelines
  • Subjects with active psychiatric illness, as manifested by abnormal mental status examination
  • Subjects with active physical illness, especially respiratory or cardiac problem, as manifested by abnormal findings on physical examination
  • Subjects with significant diagnosis of a constitutional disease or genetic disorder
  • Subjects with a history of severe trauma resulting in either an anatomical of physiological deformity that impairs function
  • Non-living subjects
  • Candidates who fail the stress test
  • Mature female subjects who are pregnant or breast-feeding will be reassessed for consideration for enrolment.
  • Mature female subjects who are currently experiencing menses will be reassessed for consideration for enrolment.
  • Subjects with active, acute illness will be reassessed for consideration for enrolment.
  • Any other condition or anomaly expected to affect current physiology listed in AFI-48-123.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01306994

Contacts
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org
Contact: Andrés Morales, MBBS morales_a@fsrgroup.org

Locations
United States, West Virginia
Freeman-Sheldon Research Group, Inc. Headquarters Recruiting
Buckhannon, West Virginia, United States, 26201
Contact: Mikaela I Poling, BA    304-460-9038    poling_mi@fsrgroup.org   
Principal Investigator: Rodger J McCormick, DEd, MS         
Sub-Investigator: Robert L Chamberlain, MD         
Sub-Investigator: Mikaela I Poling, BA         
Guatemala
San Juan de Dios General Hospital Recruiting
Guatemala City, Guatemala
Contact: Andrés Morales, MBBS       morales_a@fsrgroup.org   
Sub-Investigator: Andrés Morales, MBBS         
Sponsors and Collaborators
Freeman-Sheldon Research Group, Inc.
Investigators
Principal Investigator: Rodger J McCormick, DEd, MS Freeman-Sheldon Research Group, Inc.
  More Information

Additional Information:
Freeman-Sheldon Research Group, Inc.: Organisational website. Includes organisation information and scientific and lay information on Freeman-Sheldon syndrome and related conditions.  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier: NCT01306994     History of Changes
Other Study ID Numbers: 000079, U1111-1120-5931
Study First Received: February 26, 2011
Last Updated: October 14, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Freeman-Sheldon Research Group, Inc.:
Exercise Test
Bicycle Ergometry Test
Stress Test

Additional relevant MeSH terms:
Craniofacial Abnormalities
Congenital Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Adenosine
Analgesics
Anti-Arrhythmia Agents
Cardiovascular Agents
 Central Nervous System Agents
Peripheral Nervous System Agents
Pharmacologic Actions
Physiological Effects of Drugs
Sensory System Agents
Therapeutic Uses
Vasodilator Agents

ClinicalTrials.gov processed this record on March 03, 2015