Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions (NCT01306994) | Clinical Trial Compass
WithdrawnNot Applicable
Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Stopped: Lack of patient interest
United States0Started 2014-03
Plain-language summary
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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
* S…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Heart rate
Timeframe: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours)
2
Oxygen Consumption
Timeframe: Evaluated at rest and while exercising, during two study visits (lasting an average of 1-3 hours)