Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome

Trial Information
Status: Recruiting
Location: See all (2) locations...
Intervention Type: Other
Study Type: Observational
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.

Am I eligible for this trial?
Participation Requirements
Sex:
All
Healthy Volunteers:
No

• Patients who have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.

• Any of the following: (1) patients or parents of minor children willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.

• Persons who speak English, Spanish, German, Russian, or Czech.

Where is this trial taking place?
United States
West Virginia
Freeman-Sheldon Research Group, Inc. Headquarters
Recruiting
Buckhannon
Other Locations
Guatemala
San Juan de Dios General Hospital
Recruiting
Guatemala City
Who do I contact about this trial?
Primary
Mikaela I Poling, BA
poling_mi@fsrgroup.org
304-460-9038
When is this trial taking place?
Start Date: February 2010
Estimated Completion Date: December 2022
How many participants will be in this trial?
Target number of participants: 20
What treatment is being studied in this trial?
Freeman-Sheldon syndrome Classic Type
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); H or V shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Freeman-Sheldon syndrome Craniofacial Type
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), H or V shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
Freeman-Sheldon syndrome Mixed Type
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
Sheldon-Hall syndrome
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Distal Arthrogryposis Type 1
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Distal Arthrogryposis Type 3
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and backbones curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Who are the authors of this trial?
Mikaela I Poling, Andrés Morales

This content was sourced from clinicaltrials.gov