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1693 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
22 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
23 Recruiting International Collaborative Gaucher Group (ICGG) Gaucher Registry
Conditions: Gaucher Disease;   Cerebroside Lipidosis Syndrome;   Glucocerebrosidase Deficiency Disease;   Glucosylceramide Beta-Glucosidase Deficiency Disease
Intervention:
24 Recruiting Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation
Conditions: Piebaldism;   Idiopathic Anaphylaxis;   Allergy;   Chronic Urticara;   Angioedema
Intervention:
25 Recruiting Natural History and Genetic Studies of Usher Syndrome
Conditions: Retinitis Pigmentosa Syndromic;   Congenital Deafness;   Usher Syndrome;   Retinitis Pigmentosa and Deafness;   Progressive Hearing Loss;   Retinitis Pigmentosa
Intervention:
26 Unknown  Study of NTBC for Tyrosinemia I
Condition: Tyrosinemia I
Intervention: Drug: NTBC
27 Not yet recruiting Study of Dupilumab (REGN668/SAR231893) Monotherapy Administered to Adult Patients With Moderate-to-Severe Atopic Dermatitis
Condition: Dermatitis, Atopic
Interventions: Drug: dupilumab;   Drug: placebo
28 Unknown  Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
Condition: Prader-Willi Syndrome
Intervention: Drug: Exenatide
29 Recruiting Efficacy and Safety Study of Apremilast in Subjects With Moderate to Severe Atopic Dermatitis
Condition: Dermatitis, Atopic Dermatitis
Interventions: Drug: Apremilast;   Drug: Placebo
30 Recruiting Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content
Conditions: Iron Overload;   Hemochromatosis;   Hemosiderosis
Intervention: Other: MRI
31 Recruiting Physiological Investigations of Movement Disorders
Conditions: Parkinson's Disease;   Tourette's Syndrome;   Tic Disorders;   Dystonia;   Movement Disorders
Intervention:
32 Recruiting Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases
Conditions: Primary Immune Deficiency Disorders;   Common Variable Immunodeficiency;   X-linked Agammaglobulinaemia;   Hyper-IgM Syndrome
Interventions: Biological: Gammaplex (5%);   Biological: Gammaplex 10
33 Recruiting Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Healthy Volunteers
Intervention:
34 Recruiting Stem Cell Gene Therapy for Sickle Cell Disease
Condition: Sickle Cell Disease
Intervention: Genetic: βAS3-FB vector transduced BM CD34+ cells
35 Recruiting Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping
Condition: Duchenne Muscular Dystrophy
Intervention:
36 Not yet recruiting Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome
Conditions: Basal Cell Carcinoma of the Skin;   Nevoid Basal Cell Carcinoma Syndrome
Interventions: Drug: aminolevulinic acid hydrochloride;   Drug: photodynamic therapy;   Other: laboratory biomarker analysis;   Other: questionnaire administration
37 Recruiting Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease
Condition: Chronic Granulomatous Disease
Interventions: Drug: Busulfan;   Biological: Alemtuzumab;   Drug: Cyclophosphamide;   Drug: Fludarabine;   Drug: Cyclosporine;   Procedure: Stem Cell Infusion
38 Recruiting In Vitro Assessment of a Breath-synchronized Vibrating Mesh Nebulizer During Non Invasive Ventilation
Conditions: Respiratory Diseases;   Lung Diseases;   Cystic Fibrosis;   COPD;   Asthma
Interventions: Drug: Nebulization of Amikacin during NIV (RR: 15 cycles/minute);   Drug: Nebulization of Amikacin during NIV (RR: 25 cycles/minute)
39 Recruiting Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
Condition: Hemochromatosis Type 1
Intervention: Procedure: First evaluation phase : no intervention / Second evaluation phase: bloodletting of 7 ml/kg (with a maximum of 500ml)
40 Recruiting Study of Kidney Tumors in Young Patients
Conditions: Clear Cell Sarcoma of the Kidney;   Congenital Mesoblastic Nephroma;   Diffuse Hyperplastic Perilobar Nephroblastomatosis;   Rhabdoid Tumor of the Kidney;   Stage I Renal Cell Cancer;   Stage I Wilms Tumor;   Stage II Renal Cell Cancer;   Stage II Wilms Tumor;   Stage III Renal Cell Cancer;   Stage III Wilms Tumor;   Stage IV Renal Cell Cancer;   Stage IV Wilms Tumor;   Stage V Wilms Tumor
Interventions: Other: laboratory biomarker analysis;   Other: cytology specimen collection procedure

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Indicates status has not been verified in more than two years