Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Freeman-Sheldon Research Group, Inc.
Sponsor:
Information provided by (Responsible Party):
Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier:
NCT01144741
First received: June 14, 2010
Last updated: October 21, 2014
Last verified: October 2014

June 14, 2010
October 21, 2014
February 2010
Not Provided
Diagnosis-Related Outcome [ Time Frame: at study enrolment and follow-up, usually 2-4 years ] [ Designated as safety issue: No ]
The frequency to which syndrome diagnosis and severity of syndrome contribute to syndrome-related morbidity, especially life-long functional impairment, and mortality.
Not Provided
Complete list of historical versions of study NCT01144741 on ClinicalTrials.gov Archive Site
Feature-Specific Outcome [ Time Frame: at study enrolment ] [ Designated as safety issue: No ]
The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.
Not Provided
Intervention-Related Outcome [ Time Frame: at study enrolment and follow-up, usually 2-4 years ] [ Designated as safety issue: No ]
The relationship between certain interventions and mortality or morbidity, especially life-long functional impairment.
Not Provided
 
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome: a Retrospective, Cohort Survey

Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.

This is a study to determine what treatments are helpful to patients with FSS and Sheldon-Hall syndromes (SHS). 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. There is also substantial overlap with distal arthrogryposis type 1 (DA1) and 3 (DA3). 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 siblings, family, and parents' relationship and if any intervention was required or advised.

Others have published criteria for diagnosis of FSS and SHS, which is very important. Treatment success depends on getting a correct diagnosis, and the present study builds on this work by investigating the best ways to treat patients with FSS and SHS, depending on what's wrong and how severe the FSS and SHS is in that patient.

This study is a research project initiated by the graduate research student (Mikaela I. Poling) and assisted by the clinical genetics fellow and graduate student (Andrés Morales) in partial fulfilment the requirements for their Masters degrees in Clinical and Applied Physiology, under approval, direction, and supervision of the study PI (Rodger J. McCormick).

Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities within a similar clinical FSS-like syndrome. 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 study objectives are as follows to evaluate: (1) diagnosis-related outcome trends, (2) feature-specific outcomes, and (3) general interventions' association with outcomes for all and each diagnosis. It is hoped the study will identify areas for further research in physiology and therapeutics in classic FSS, SHS, DA1, and DA3.

The following hypotheses are thus proposed: (1) classic FSS is expected to have the worse overall outcome, involving significant life-long musculoskeletal functional impairment and severe cases involving pulmonary complications; (2) SHS, DA1, and DA3 are expected to show moderate and mild life-long impairment that is also more responsive to intervention and improves with age, even in absence of intervention; (3) spinal, hand, and feet deformities are associated with the worst outcomes that may include life-long functional impairment, especially in classic FSS and SHS; (4) physiotherapy alone or with surgery is expected to be superior to surgery alone in treating most problems; and (5) surgery may have an important role, especially treating blepharophimosis and in combination with intensive pre- and post-operative physiotherapy in treating selective tendon lengthening in hands and feet.

Observational
Observational Model: Cohort
Time Perspective: Retrospective
Not Provided
Retention:   Samples With DNA
Description:

Any specimens received as part of records review, such as pathology microscope slides or frozen sections, will be retained as per institutional policy.

Non-Probability Sample

Patients world-wide are welcome, so long as they have a qualifying diagnosis.

  • Arthrogryposis
  • Craniofacial Abnormalities
  • Other: STOP-FSS Survey
    STOP-FSS Survey is a self-report measure that will be used to assess diagnosis- and feature-related outcomes.
  • Other: Medical Records Review
    Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
    Other Names:
    • clinical records review
    • treatment records review
    • clinical record review
    • treatment record review
    • medical management records review
    • medical management record review
    • patient notes review
    • patient history review
    • clinical data review
    • personal health data review
    • personal health records review
    • personal health record review
  • Classic Freeman-Sheldon syndrome
    Patients with features consistent with this diagnosis.
    Interventions:
    • Other: STOP-FSS Survey
    • Other: Medical Records Review
  • Sheldon-Hall syndrome
    Patients with features consistent with this diagnosis.
    Interventions:
    • Other: STOP-FSS Survey
    • Other: Medical Records Review
  • Distal arthrogryposis type 1
    Patients with features consistent with this diagnosis.
    Interventions:
    • Other: STOP-FSS Survey
    • Other: Medical Records Review
  • Distal arthrogryposis type 3
    Patients with features consistent with this diagnosis.
    Interventions:
    • Other: STOP-FSS Survey
    • Other: Medical Records Review

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
20
Not Provided
Not Provided

Inclusion Criteria:

  • Classic Freeman-Sheldon syndrome,
  • Sheldon-Hall syndrome,
  • Distal arthrogryposis type 1, or
  • Distal arthrogryposis type 3
  • Deceased individuals with enough clinical data available to satisfy study requirements

Exclusion Criteria:

  • Deceased individuals without enough clinical data available to satisfy study requirements
  • Patients or parents of minor children not willing to give consent
  • Healthy volunteers
  • Individuals not confirmed by study investigators to have a diagnosis under study
Both
Not Provided
No
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org
Contact: Andrés Morales, MBBS morales_a@@fsrgroup.org
United States,   Guatemala
 
NCT01144741
000063, U1111-1120-5851
No
Freeman-Sheldon Research Group, Inc.
Freeman-Sheldon Research Group, Inc.
Not Provided
Principal Investigator: Rodger J McCormick, DEd, MS Freeman-Sheldon Research Group, Inc.
Freeman-Sheldon Research Group, Inc.
October 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP