Trial record 1 of 3 for:    "Freeman-Sheldon syndrome"
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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 2013 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, 2013
Last verified: October 2013
  Purpose

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.


Condition Intervention
Arthrogryposis
Craniofacial Abnormalities
Other: STOP-FSS Survey
Other: Medical Records Review

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome: a Retrospective, Cohort Survey

Resource links provided by NLM:


Further study details as provided by Freeman-Sheldon Research Group, Inc.:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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.


Other Outcome Measures:
  • 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.


Biospecimen Retention:   Samples With DNA

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


Estimated Enrollment: 20
Study Start Date: February 2010
Groups/Cohorts Assigned Interventions
Classic Freeman-Sheldon syndrome
Patients with features consistent with this diagnosis.
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
Sheldon-Hall syndrome
Patients with features consistent with this diagnosis.
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
Distal arthrogryposis type 1
Patients with features consistent with this diagnosis.
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
Distal arthrogryposis type 3
Patients with features consistent with this diagnosis.
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

Detailed Description:

This study is a research project initiated by the research student (Mikaela I. Poling) and assisted by the clinical genetics fellow (Andrés Morales) in partial fulfilment the FSRG Foundation Programme, under approval, direction, and supervision of the study PI (Rodger J. McCormick) and Sub-Investigator (Richard A. Chamberlain).

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01144741

Contacts
Contact: Mikaela I Poling, BA 304-460-9038 poling_mi@fsrgroup.org
Contact: Andrés Morales, MD andresm452@outlook.com

Locations
United States, West Virginia
Freeman-Sheldon Research Group, Inc. Headquarters Recruiting
Buckhannon, West Virginia, United States, 26201
Contact: Mikaela I Poling, BA    304-460-9038    poling_mi@fsrgroup.org   
Principal Investigator: Rodger J McCormick, DEd, MS         
Sub-Investigator: Robert L Chamberlain, MD         
Sub-Investigator: Richard A Chamberlain, MSW         
Sub-Investigator: Mikaela I Poling, BA         
Guatemala
San Juan de Dios General Hospital Recruiting
Guatemala City, Guatemala
Contact: Andrés Morales, MD       andresm452@outlook.com   
Sub-Investigator: Andrés Morales, MD         
Sponsors and Collaborators
Freeman-Sheldon Research Group, Inc.
Investigators
Principal Investigator: Rodger J McCormick, DEd, MS Freeman-Sheldon Research Group, Inc.
  More Information

Additional Information:
Publications:
Freeman EA, Sheldon JH. Cranio-carpo-tarsal dystrophy: undescribed congenital malformation. Arch Dis Child. 13:277-283, 1938.
Paprocka J, Jamroz E, Pyrkosz A, Marsza E. Freeman-Sheldon syndrome. Arch Dis Child. 2008;93(Suppl II):A340-A352.
Mustacchi Z, Richieri-Costa A, Frota-Pessoa O. The Freeman-Sheldon syndrome. Rev Brazil Genet. 1979;2(4):259-266.
Litman RS, Rosenberg H. Malignant hyperthermia. JAMA. 2005; 293(23):2918-2924.

Responsible Party: Freeman-Sheldon Research Group, Inc.
ClinicalTrials.gov Identifier: NCT01144741     History of Changes
Other Study ID Numbers: 000063, U1111-1120-5851
Study First Received: June 14, 2010
Last Updated: October 21, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Freeman-Sheldon Research Group, Inc.:
rehabilitation
surgery
therapy

Additional relevant MeSH terms:
Congenital Abnormalities
Arthrogryposis
Craniofacial Dysostosis
Craniofacial Abnormalities
Joint Diseases
Musculoskeletal Diseases
Muscular Diseases
Musculoskeletal Abnormalities
Dysostoses
Bone Diseases, Developmental
Bone Diseases

ClinicalTrials.gov processed this record on July 22, 2014