Status:
TERMINATED
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Lead Sponsor:
Freeman-Sheldon Research Group, Inc.
Conditions:
Freeman-Sheldon Syndrome
Arthrogryposis Distal Type 2A
Eligibility:
All Genders
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, hel...
Detailed Description
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 s...
Eligibility Criteria
Inclusion
- 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.
Exclusion
- Patients who do not 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 not willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who do not have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
- Potentially persons who speak languages other than English, Spanish, German, Russian, or Czech, subject to translator availability
Key Trial Info
Start Date :
February 1 2010
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 14 2022
Estimated Enrollment :
2 Patients enrolled
Trial Details
Trial ID
NCT01144741
Start Date
February 1 2010
End Date
June 14 2022
Last Update
June 21 2022
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Freeman-Sheldon Research Group, Inc. Headquarters
Buckhannon, West Virginia, United States, 26201