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
102 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Rank Status Study
21 Active, not recruiting National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Conditions: Marfan Syndrome;   Turner Syndrome;   Ehlers-Danlos Syndrome;   Loeys-Dietz Syndrome;   FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation;   Bicuspid Aortic Valve Without Known Family History;   Bicuspid Aortic Valve With Family History;   Bicuspid Aortic Valve With Coarctation;   Familial Thoracic Aortic Aneurysm and Dissections;   Shprintzen-Goldberg Syndrome;   Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo;   Other Congenital Heart Disease
Intervention:
22 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
23 Completed Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly
Condition: Holoprosencephaly
Intervention:
24 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
25 Active, not recruiting Thymus Transplantation in DiGeorge Syndrome #668
Conditions: DiGeorge Syndrome;   Complete Typical DiGeorge Anomaly
Intervention: Biological: Thymus Tissue for Transplantation
26 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
27 Recruiting Microcephaly Genetic Deficiency in Neural Progenitors
Condition: Microcephaly
Intervention:
28 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
29 Terminated Infection in DiGeorge Following CHD Surgery
Conditions: DiGeorge Syndrome;   Congenital Heart Defects
Intervention:
30 Completed Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
31 Withdrawn Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study.
Condition: Metopic Craniosynostosis
Intervention: Biological: Allogenix Plus
32 Enrolling by invitation Efficacy of Amicar for Children Having Craniofacial Surgery
Condition: Craniosynostosis
Interventions: Drug: Amicar (ε-aminocaproic acid);   Drug: normal saline
33 Recruiting Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy
Condition: Cardiomegaly
Intervention: Drug: MEK162
34 Active, not recruiting Phase I/II Thymus Transplantation With Immunosuppression #950
Conditions: DiGeorge Anomaly;   Complete DiGeorge Anomaly;   Complete Atypical DiGeorge Anomaly;   Complete DiGeorge Syndrome;   Complete Atypical DiGeorge Syndrome
Interventions: Biological: Thymus Tissue for Transplantation;   Other: Thymus Tissue and Parental Parathyroid Transplantation;   Procedure: Blood Draw;   Drug: Rabbit anti-thymocyte globulin;   Drug: Cyclosporine;   Drug: Tacrolimus;   Drug: Methylprednisolone or Prednisolone;   Drug: Daclizumab;   Drug: Mycophenolate mofetil
35 Completed Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Conditions: DiGeorge Syndrome;   Velocardiofacial Syndrome;   22q11.2 Syndrome
Intervention:
36 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
37 Completed Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
Condition: Smith-Lemli-Opitz Syndrome
Intervention:
38 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
39 Terminated Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome
Condition: Noonan Syndrome
Intervention: Drug: rhIGF-1/rhIGFBP-3
40 Recruiting Study of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
Intervention:

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Indicates status has not been verified in more than two years