Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions - Full Text View

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:

Genetics Home Reference related topics: Crouzon syndrome Crouzon syndrome with acanthosis nigricans Freeman-Sheldon syndrome Kuskokwim syndrome Nager syndrome Sheldon-Hall syndrome branchio-oculo-facial syndrome congenital contractural arachnodactyly distal arthrogryposis type 1

Genetic and Rare Diseases Information Center resources: Arthrogryposis Multiplex Congenita Freeman Sheldon Syndrome Crouzon Syndrome

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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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) ]
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 ]
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) ]
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) ]
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) ]
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 ]
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 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 psychological examination psychological evaluation psychological assessment psychological interview psychological intake examination psychological intake evaluation psychological intake assessment psychological intake interview

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
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
psychological examination
psychological evaluation
psychological assessment
psychological interview
psychological intake examination
psychological intake evaluation
psychological intake assessment
psychological intake interview

Show Detailed Description

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
Sexes Eligible for Study:	All
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

This link exits the ClinicalTrials.gov site

Publications:

Vanĕk J, Janda J, Amblerová V, Losan F. Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? J Med Genet. 1986 Jun;23(3):231-6.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. Epub 2006 Apr 16.

Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. 2006 Mar;117(3):754-62.

Portillo AL, Chamberlain RL, McCormick RJ, Poling MI. Histopathological and Operative Findings in a Severe Case of Freeman-Sheldon Syndrome: Implications for Nosology and Therapy. (Unpubl.) 2010.

Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA. 2005 Jun 15;293(23):2918-24.

McCormick RJ. A Proposal for a Thesis: Heat Tolerance in Exercising Lean and Obese Middle-Aged Men. DEd diss., the Pennsylvania State University, 1973.

Myhill S, Booth NE, McLaren-Howard J. Chronic fatigue syndrome and mitochondrial dysfunction. Int J Clin Exp Med. 2009;2(1):1-16. Epub 2009 Jan 15.

Northridge DB, Grant S, Ford I, Christie J, McLenachan J, Connelly D, McMurray J, Ray S, Henderson E, Dargie HJ. Novel exercise protocol suitable for use on a treadmill or a bicycle ergometer. Br Heart J. 1990 Nov;64(5):313-6.

Franklin B, Fern A, Fowler A, Spring T, Dejong A. Exercise physiologist's role in clinical practice. Br J Sports Med. 2009 Feb;43(2):93-8. doi: 10.1136/bjsm.2008.055202. Epub 2008 Dec 2. Review.


Responsible Party:	Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier:	NCT01306994 History of Changes
Other Study ID Numbers:	000079 U1111-1120-5931 ( Other Identifier: World Health Organisation, Universal Trial Number )
Study First Received:	February 26, 2011
Last Updated:	October 14, 2014

Keywords provided by Freeman-Sheldon Research Group, Inc.:


Exercise Test Bicycle Ergometry Test Stress Test

Additional relevant MeSH terms:


Craniofacial Dysostosis Craniofacial Abnormalities Arthrogryposis Musculoskeletal Abnormalities Musculoskeletal Diseases Congenital Abnormalities Joint Diseases Muscular Diseases Dysostoses Bone Diseases, Developmental Bone Diseases Adenosine	Analgesics Sensory System Agents Peripheral Nervous System Agents Physiological Effects of Drugs Anti-Arrhythmia Agents Vasodilator Agents Purinergic P1 Receptor Agonists Purinergic Agonists Purinergic Agents Neurotransmitter Agents Molecular Mechanisms of Pharmacological Action

ClinicalTrials.gov processed this record on July 19, 2017

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