Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions (FSS-EDICT I)
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ClinicalTrials.gov Identifier: NCT01306994 |
Recruitment Status
:
Not yet recruiting
First Posted
: March 2, 2011
Last Update Posted
: April 2, 2018
|
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Condition or disease | Intervention/treatment |
---|---|
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 |
Estimated Enrollment : | 20 participants |
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 |
Estimated Study Start Date : | March 2020 |
Estimated Primary Completion Date : | June 2022 |
Estimated Study Completion Date : | December 2022 |

Group/Cohort | Intervention/treatment |
---|---|
Syndrome Group
Individuals with Freeman-Sheldon, Sheldon-Hall, distal arthrogryposis type 1, or distal arthrogryposis type 3
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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:
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:
Other: Functional Enquiry Form
Evaluated before clinical examination, it is a checklist of medical problems.
Other Names:
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:
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:
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:
Other: Mental Health Interview
Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.
Other Names:
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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:
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:
Other: Functional Enquiry Form
Evaluated before clinical examination, it is a checklist of medical problems.
Other Names:
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:
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:
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:
Other: Mental Health Interview
Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.
Other Names:
|
- 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.
- 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.
- 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

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Ages Eligible for Study: | Child, Adult, Senior |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Probability Sample |
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01306994
Contact: Mikaela I Poling, BA | 304-460-9038 | poling_mi@fsrgroup.org |
United States, West Virginia | |
Freeman-Sheldon Research Group, Inc. Headquarters | Not yet recruiting |
Buckhannon, West Virginia, United States, 26201 | |
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org | |
Sub-Investigator: Mikaela I Poling, BA |
Additional Information:
Publications:
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 ) |
First Posted: | March 2, 2011 Key Record Dates |
Last Update Posted: | April 2, 2018 |
Last Verified: | March 2018 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Plan Description: | We do not intend to share any individual participant data. |
Keywords provided by Freeman-Sheldon Research Group, Inc.:
Exercise Test Bicycle Ergometry Test Stress Test |
Additional relevant MeSH terms:
Craniofacial Dysostosis Arthrogryposis Craniofacial Abnormalities Joint Diseases Musculoskeletal Diseases Muscular Diseases Musculoskeletal Abnormalities Congenital Abnormalities 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 |