Clinical trials: Muscle Dysmorphia
Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM).
- Conditions
- Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
- Trial name
- NCT01902940
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 350 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between…
- Conditions
- Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome
- Trial name
- FINDFSS (NCT05419245)
- Testing
- Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Dufresne, Craig, MD, PC
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
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.
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia
- Trial name
- STOP-FSS (NCT01144741)
- Testing
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Freeman-Sheldon Research Group, Inc.