1687 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
22 Recruiting Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
Conditions: Malignancy;   Metabolic Disease;   Genetic Disorder
Intervention: Biological: Thymoglobulin (rATG)
23 Recruiting Prenatal Microarray Follow-Up Study
Condition: Genetic Diseases
Intervention: Other: 3-year follow-up
24 Recruiting North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Conditions: Mitochondrial Disorders;   Mitochondrial Genetic Disorders;   Mitochondrial Diseases;   Disorder of Mitochondrial Respiratory Chain Complexes;   Deletion and Duplication of Mitochondrial DNA
Intervention:
25 Recruiting Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Condition: Genetic Diseases
Intervention:
26 Recruiting Personalized Genomic Research
Conditions: Genetics;   Genetic Disease;   Genetic Linkage;   Birth Defects;   Genetic Variation
Intervention:
27 Recruiting Inherited Reproductive Disorders
Conditions: Endocrine Diseases;   Genetic Disorder;   Infertility;   Hypogonadism;   Amenorrhea
Intervention:
28 Recruiting Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
Condition: Genetic Disorder
Intervention:
29 Unknown  Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples
Condition: Genetic Disorders
Intervention:
30 Recruiting Genetic Analysis of Hereditary Disorders of Hearing and Balance
Conditions: Sensorineural Hearing Loss;   Hearing Disorder;   Vestibular Disease
Intervention:
31 Recruiting Cord Blood Transplantation in Severe Aplastic Anemia
Conditions: Hereditary Diseases;   Acquired Aplastic Anemia;   Relapse;   Absence of an HLA Identical Donor
Intervention: Procedure: Cord Blood Transplantation
32 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
33 Recruiting Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Condition: Primary Immune Deficiency
Intervention:
34 Recruiting Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
35 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:
36 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
37 Unknown  Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
38 Recruiting Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
Condition: Williams Beuren Syndrome
Interventions: Drug: Minoxidil;   Drug: Placebo
39 Unknown  Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
Condition: Lamellar Ichthyosis
Intervention: Drug: apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
40 Recruiting Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant
Conditions: Childhood Acute Lymphoblastic Leukemia in Remission;   Childhood Acute Myeloid Leukemia in Remission;   Childhood Chronic Myelogenous Leukemia;   Childhood Myelodysplastic Syndromes;   Chronic Eosinophilic Leukemia;   Chronic Myelomonocytic Leukemia;   Chronic Neutrophilic Leukemia;   de Novo Myelodysplastic Syndromes;   Disseminated Neuroblastoma;   Juvenile Myelomonocytic Leukemia;   Mucositis;   Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable;   Previously Treated Childhood Rhabdomyosarcoma;   Previously Treated Myelodysplastic Syndromes;   Recurrent Childhood Acute Lymphoblastic Leukemia;   Recurrent Childhood Acute Myeloid Leukemia;   Recurrent Childhood Large Cell Lymphoma;   Recurrent Childhood Lymphoblastic Lymphoma;   Recurrent Childhood Rhabdomyosarcoma;   Recurrent Childhood Small Noncleaved Cell Lymphoma;   Recurrent Malignant Testicular Germ Cell Tumor;   Recurrent Wilms Tumor and Other Childhood Kidney Tumors;   Recurrent/Refractory Childhood Hodgkin Lymphoma;   Relapsing Chronic Myelogenous Leukemia;   Secondary Acute Myeloid Leukemia;   Secondary Myelodysplastic Syndromes;   Unspecified Childhood Solid Tumor, Protocol Specific
Interventions: Drug: supersaturated calcium phosphate rinse;   Other: placebo;   Other: questionnaire administration;   Procedure: quality-of-life assessment

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Indicates status has not been verified in more than two years