Clinical Trial: Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome

Brief Summary:

Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.

This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy.

This study will cover all types of treatment [medical (non-surgical), including psychiatric, and surgical treatments], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.

Detailed Summary:

This study was initiated by the research assistant (Mikaela I. Poling) and assisted by another research assistant (J. Andrés Morales), as part of their academic project on these syndromes, under the supervision of the Principal Investigator (Robert L Chamberlain).

Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities that share some similar physical findings to FSS. Stevenson et al. (2006) provided the only study to date on FSS features and history. They did not, however, focus on therapeutic outcomes, and there was limited anecdotal outcome data in single and multiple case reports.

The objectives for STOP-FSS are as follows: to evaluate (1) physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; (2) posttraumatic stress and depressive symptoms and associated therapeutic outcomes in patients with FSS, using single-disease specific (i.e., posttraumatic stress symptoms, chronic depression) measures; (3) document treatment types and outcomes; (4) evaluate quality of life in patients with FSS, using a general quality of life self-report measure and syndrome-specific semi-structured quality of life interview; (5) educational attainment and services used; (6) evaluate diagnostic accuracy of FSS and SHS, using the Stevenson criteria; and (7) evaluate possible differences with patients meeting the full Stevenson criteria and those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations.

The following hypotheses are thus proposed. First, it is suggested that physical findings and frequency clusters will be similar to those previously reported, but complications of physical findings amongst patients with FSS, having received little attention in the literatu
Sponsor: Freeman-Sheldon Research Group, Inc.

Current Primary Outcome: Physical Findings and Complications of Physical Findings [ Time Frame: during a single study interview, which lasts 1-2 hours ]

Original Primary Outcome:

Current Secondary Outcome: Posttraumatic Stress and Depressive Symptoms [ Time Frame: at study enrolment and during a single study interview, which lasts 1-2 hours ]

Original Secondary Outcome:

Information By: Freeman-Sheldon Research Group, Inc.

Dates:
Date Received: June 14, 2010
Date Started: February 2010
Date Completion: December 2017
Last Updated: April 5, 2017
Last Verified: April 2017