Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
50 studies found for:    Open Studies | "Craniofacial Abnormalities"
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Rank Status Study
1 Recruiting 3D-Printed CPAP Masks for Children With Obstructive Sleep Apnea
Conditions: Sleep Apnea, Obstructive;   Craniofacial Abnormalities;   Pediatric Disorder
Intervention: Device: Personalized continuous positive airway pressure (CPAP) mask
2 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
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 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
5 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
6 Unknown  3D Imaging of Hard and Soft Tissue in Orthognathic Surgery
Conditions: Craniofacial Abnormalities;   Maxillofacial Abnormalities;   Cleft Lip;   Cleft Palate
Interventions: Procedure: 3D stereophotogrammetric imaging;   Procedure: 3D CT-imaging with cone-beam CT;   Procedure: Case report form
7 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
8 Recruiting Natural History of Cherubism Observational Study
Condition: Cherubism
Intervention: Other: no interventions
9 Recruiting Changes Following the Treatment of Lower Jaw Protrusion Using Two Appliances
Condition: Class III Malocclusion in Growing Patients
Intervention: Device: Tandem Appliance
10 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
11 Not yet recruiting Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.
Condition: 22q11 Deletion Syndrome
Interventions: Dietary Supplement: omega-3 PUFAs;   Other: Standard care;   Dietary Supplement: placebo
12 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
13 Recruiting Immune Disorder HSCT Protocol
Conditions: Immune Deficiency Disorders:;   Severe Combined Immunodeficiency;   Chronic Granulomatous Disease;   X-linked Agammaglobulinemia;   Wiskott-Aldrich Syndrome;   Hyper-IgM;   DiGeorge Syndrome;   Chediak-Higashi Syndrome;   Common Variable Immune Deficiency;   Immune Dysregulatory Disorder:;   Hemophagocytic Lymphohistiocytosis;   IPEX;   Autoimmune Lymphoproliferative Syndrome;   X-linked Lymphoproliferative Syndrome
Intervention: Drug: Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
14 Recruiting Microcephaly Genetic Deficiency in Neural Progenitors
Condition: Microcephaly
Intervention:
15 Recruiting Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care
Condition: Craniosynostosis
Interventions: Other: qualitative survey;   Other: quantitative survey
16 Recruiting Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy
Condition: Cardiomegaly
Intervention: Drug: MEK162
17 Not yet recruiting Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial
Condition: Plagiocephaly
Interventions: Device: Helmet;   Behavioral: home therapies
18 Recruiting Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial
Condition: Craniosynostosis Patients Undergoing Distraction Osteotomy
Interventions: Drug: Tranexamic Acid;   Drug: normal saline
19 Recruiting Study of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
Intervention:
20 Recruiting Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Condition: Pregnant Women Requiring Amniocentesis
Intervention: Genetic: Methylation Index

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