In February 2011, the FSRG IRB #1 approved three new clinical studies, according to FSRG Secretary and research assistant, MI Poling, who is the co-author of the protocols, along with her mentor and FSRG President and Physiologist-in-Chief, Dr. RJ McCormick. Poling said, 'This marks the beginning of an exciting new era in clinical research. We are eager to help patients in innovative ways and educate the different lay and professional communities about Freeman-Sheldon [FSS] and Sheldon-Hall syndromes [SHS].' While all three studies are designed to collect observational information, Poling explained that each study paves the way toward therapeutic trials. Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome, or STOP-FSS, is a survey and medical records review study designed to collect information about patients' medical history, their current problems, and how they were affected by any specific treatments they had. 'The goal is to learn what we're doing right and what we're not,' said Poling. 'Before we start interventional trials,' she continued, 'we must sort things out.' According to the trial protocol, a secondary goal of the study is to collect better information about problems in FSS and SHS. Freeman-Sheldon Syndrome Quality of Life Study, or FSS-QLS, is a study designed to collect information about patients', their families', and other affected individuals' (persons who have spent considerable time with FSS and SHS patients) quality of life in relationship to FSS and SHS. The study involves a medical examination to evaluate subjects' physical and mental health and completion of some surveys. The study aims to evaluate mental health issues in subjects and the relationship between physical and mental health and quality of life. The study will also evaluate effectiveness of different standard surveys to evaluate quality of life and mental health. 'The first phases of this study will lay the groundwork for drafting and evaluation of a syndrome specific survey,' said Poling, who adds, 'Recent studies in patients having different genetic and acquired conditions point toward the idea that surveys tailored to their specific condition do a significantly better job of evaluating how they're doing and how they feel.' 'That assessment helps clinicians tailor care and researchers develop more appropriate therapies that are outcomes-focused,' she continued. The end result is that we all do a better job of helping patients feel better and function better in life. Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings, or FSS-EDICT, is a study designed to evaluate the functioning of persons' bodies (with the above disorders) compared with normal people's bodies. Knowing the difference in the body's functioning is very important in developing new treatments. Similar to FSS-QLS, FSS-EDICT involves a medical examination to evaluate subjects' physical and mental health and completion of some surveys. Additionally, subjects will complete a stress test, if they meet certain safety guidelines. Poling said, 'We know basically what these syndromes look like, but 73 years after the original case reports, we still do not know what they do to the way patients' bodies function.' 'We must understand the physiology of FSS and SHS before we can legitimately and thoroughly develop and evaluate syndrome-specific therapies,' she continued. All involved in the research agreed that this study was the most significant of the three and the most critical on the road to being able to gain better insights into the underlying difficulties that can make these syndromes so hard to treat. Persons with FSS, SHS, distal arthrogryposis type 1, and type 3 are being sought to participate in the studies. Healthy participants are being sought for FSS-EDICT. For more information or to enquire about enrolment, please contact Maria Patterson, the clinical research coordinator, via her electronic mail address recruiter@fsrgroup.org. |
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