16 studies found for:    "Nager syndrome" OR "Craniofacial Dysostosis"
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Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 Recruiting Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: STOP-FSS Survey;   Other: Medical Records Review
2 Recruiting Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities;   Posttraumatic Stress Disorder;   Depressive Disorder
Interventions: Other: PTSD Checklist-Specific;   Other: Modified Flanagan Quality of Life Scale;   Other: Center for Epidemiologic Studies Depression Scale;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: PTSD, Depression, and FSS-Focused Examination;   Other: Freeman-Sheldon Specific Quality of Life Survey;   Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
3 Recruiting Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels;   Procedure: Physiological Stress Test;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: Observational Gait Analysis;   Other: Mental Health Interview
4 Recruiting Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Dietary Supplement: Cholesterol supplementation
5 Recruiting Study of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
Intervention:
6 Completed A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemi-Opitz Syndrome
Intervention:
7 Completed Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Condition: Smith-Lemli-Opitz Syndrome
Intervention:
8 Completed
Has Results
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: Dietary cholesterol supplementation
9 Completed Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells
Condition: Craniofacial Microsomia
Interventions: Procedure: Supplementation of ADRC;   Procedure: Without supplementation of ADRC
10 Completed Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: crystalline cholesterol oil-based suspension
11 Recruiting SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
Condition: Smith-Lemli-Opitz Syndrome
Interventions: Drug: Simvastatin;   Dietary Supplement: Lactose
12 Unknown  Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Behavioral: diet
13 Completed Prenatal Screening For Smith-Lemli-Opitz Syndrome
Conditions: Smith-Lemli-Opitz Syndrome;   Pregnancy
Intervention:
14 Recruiting Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
Condition: Craniometaphyseal Dysplasia
Intervention:
15 Recruiting Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Conditions: Smith-Lemli-Opitz Syndrome;   Cone-Rod Dystrophy;   Hearing Loss
Interventions: Drug: Antioxidants;   Drug: Cholesterol
16 Completed
Has Results
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Interventions: Drug: Simvastatin Susp.;   Drug: OraPlus

Indicates status has not been verified in more than two years