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1716 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
1 Recruiting Mutations in Genes Associated With Pentalogy of Cantrell
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
2 Recruiting Pilot Study of Cardiac MR in Patients With Muscular Dystrophy
Conditions: Muscular Dystrophies;   Cardiac Fibrosis;   Genetic Diseases, Inborn;   Musculoskeletal Diseases
Intervention:
3 Recruiting Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Condition: Hereditary Disease
Intervention:
4 Recruiting North Carolina Newborn Exome Sequencing for Universal Screening
Conditions: Metabolism, Inborn Errors;   Hearing Loss;   Hereditary Disease
Interventions: Genetic: Well infant, whole exome sequencing;   Genetic: Diagnosed, whole exome sequencing
5 Recruiting Biomarker for Patients With a Cystic Fibrosis Disease
Conditions: Cystic Fibrosis;   Mucoviscidosis;   Hereditary Disease
Intervention:
6 Recruiting Biomarker for Hypophosphatasia Disease
Conditions: HEREDITARY DISEASES;   METABOLISM, INBORN ERRORS;   Hypophosphatasia
Intervention:
7 Recruiting Genomic Sequencing for Childhood Risk and Newborn Illness
Conditions: Hereditary Disease;   Genetic Predisposition to Disease
Interventions: Genetic: Genomic sequencing;   Other: Family history report
8 Recruiting A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and Specialists
Conditions: Eczema;   Dermatitis;   Dermatitis, Atopic;   Genetic Disease, Inborn;   Hypersensitivity;   Hypersensitivity, Immediate;   Immune System Diseases;   Skin Diseases;   Skin Diseases, Eczematous;   Skin Diseases, Genetic
Interventions: Other: Care provided by general pediatrician;   Other: Care provided by pediatric dermatologist
9 Recruiting The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
Conditions: UCD;   MMA;   Acidemias;   Fatty Acid Oxidation Defects;   Mitochondrial Disease
Intervention:
10 Recruiting Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Condition: Metabolism
Intervention:
11 Not yet recruiting Efficacy and Safety of Dupilumab in Patients ≥12 to <18 Years of Age, With Moderate-to-Severe Atopic Dermatitis
Conditions: Moderate-to-Severe Atopic Dermatiti;   Dermatitis, Dermatitis Atopic;   Eczema, Skin Diseases, Skin;   Diseases Genetic, Genetic;   Diseases Inborn, Skin;   Disease, Eczematous Skin;   Hypersensitivity, Immediate;   Hypersensitivity, Immune System Diseases;   Dermatitis, Atopic
Interventions: Drug: Dupilumab;   Drug: Placebos
12 Available Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
Conditions: Hematologic Malignancies;   Inborn Errors of Metabolism Disorders;   Immune Deficiencies
Intervention: Biological: CliniMACS CD34 Reagent System
13 Recruiting Second or Greater Allogeneic Hematopoietic Stem Cell Transplant Using Reduced Intensity Conditioning (RIC)
Conditions: Hematologic Disorders;   Hemoglobinopathies;   Immunodeficiencies
Interventions: Drug: Busulfan;   Drug: Fludarabine;   Radiation: Total body irradiation;   Biological: Stem cell transplant;   Drug: Keppra
14 Recruiting Biomarker for Patients With Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Metabolic Diseases;   Amyloid Neuropathies;   Amyloidosis, Familial;   Polyneuropathies
Intervention:
15 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:
16 Not yet recruiting Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases
Condition: Lipid Metabolism, Inborn Errors
Intervention: Biological: Anti-oxLDL IgM antibody
17 Recruiting N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Condition: Inborn Errors of Metabolism
Intervention: Drug: N-carbamylglutamate
18 Recruiting Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease
Conditions: Mucopolysaccharidosis Type I;   MPS I;   Hurler-Scheie Syndrome;   Gargoylism, Hurler Syndrome
Intervention:
19 Recruiting A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion
Condition: Aromatic Amino Acid Decarboxylase Deficiency
Intervention: Drug: AAV2-hAADC
20 Recruiting A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Condition: AADC Deficiency
Intervention: Drug: AAV2-hAADC

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Study has passed its completion date and status has not been verified in more than two years.