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Trial record 4 of 4 for:    "Arthrogryposis multiplex congenita"
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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.
Verified October 2012 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 28, 2012
Last verified: October 2012
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 susceptable 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 during two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: Yes ]
    Increased heart rate is used as an index of cardiovascular strain.


Secondary Outcome Measures:
  • Non-Invasive Arterial Blood Pressure [ Time Frame: Evaluated 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.

  • Lung Volumes [ Time Frame: Evaluated during two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: Yes ]
    Decreased lung volumes are used as an index of strain caused by Freeman-Sheldon syndrome and related conditions.

  • Saturation of Peripheral Oxygen [ Time Frame: Evaluated during two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: Yes ]
    Decreased saturation of peripheral oxygen is used as an index of strain caused by Freeman-Sheldon syndrome and related conditions.

  • Respiratory Rate [ Time Frame: Evaluated during two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: Yes ]
    Increased respiratory rate is used as an index of cardiovascular strain.

  • Electrocardiogram Tracings [ Time Frame: Evaluated during two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: Yes ]
    Electrocardiogram tracings are used as an index of cardiovascular strain.

  • Oesophageal (Core) Temperature [ Time Frame: Evaluated at rest and while exercising, during second of two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: Yes ]
    Increased oesophageal (core) temperature is used as an index of cardiovascular strain.

  • Adenosine Triphosphate Blood Levels [ Time Frame: Evaluated at rest and while exercising, during second of two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: No ]
    Adenosine triphosphate blood levels are used as an index of strain caused by Freeman-Sheldon syndrome and related conditions.

  • Borg Scale Ratings of Perceived Exertion [ Time Frame: Evaluated while exercising, during second of two study visits (lasting an average of 1-3 hours) ] [ Designated as safety issue: No ]
    Increased Borg scale ratings of perceived exertion 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 is used as an indicator of malignant hyperthermia, when increased core temperature, heart, and respiratory rate are present.

  • Medical Outcomes Trust Short Form (36) Health Survey (SF-36) [ Time Frame: Evaluated in first of two study visits, lasting an average of 1-3 hours ] [ Designated as safety issue: No ]
    Medical Outcomes Trust Short Form (36) Health Survey (SF-36) will be used to assess physical quality of life, which correlates strongly with physical exercise capacity.


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

Contacts
Contact: Gerald P Perman, MD 202-331-8213 gpperman@gmail.com
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org

Locations
United States, West Virginia
Freeman-Sheldon Research Group, Inc. Headquarters Recruiting
Buckhannon, West Virginia, United States, 26201
Contact: Gerald P Perman, MD     202-331-8213     gpperman@gmail.com    
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: Gerald P Perman, MD            
Sub-Investigator: Mikaela I Poling, BA            
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 28, 2012
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:
Arthrogryposis
Congenital Abnormalities
Craniofacial Dysostosis
Craniofacial Abnormalities
Joint Diseases
Musculoskeletal Diseases
Muscular Diseases
Musculoskeletal Abnormalities
Dysostoses
Bone Diseases, Developmental
Bone Diseases
 Adenosine
Analgesics
Sensory System Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Pharmacologic Actions
Central Nervous System Agents
Therapeutic Uses
Anti-Arrhythmia Agents
Cardiovascular Agents
Vasodilator Agents

ClinicalTrials.gov processed this record on May 21, 2013