1945 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Natural History of Noncirrhotic Portal Hypertension
Conditions: Cystic Fibrosis;   Immunologic Deficiency Syndrome;   Turner Syndrome;   Congenital Hepatic Fibrosis;   Idiopathic Non-Cirrhotic Portal Hypertension
Intervention:
22 Recruiting Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Condition: Hereditary Disease
Intervention:
23 Unknown  Doxycycline Treatment in Mild Graves' Orbitopathy
Conditions: Graves Ophthalmopathy;   Graves Disease;   Eye Diseases;   Thyroid Diseases;   Endocrine System Diseases;   Eye Diseases, Hereditary;   Hyperthyroidism;   Autoimmune Diseases;   Immune System Diseases
Interventions: Drug: Doxycycline;   Drug: placebo
24 Recruiting The NIH Exercise Therapy for Advanced Lung Disease Trials: Response and Adaptation to Aerobic Exercise in Patients With Interstitial Lung Disease
Conditions: Interstitial Lung Disease;   Idiopathic Pulmonary Fibrosis;   Interstitial Pneumonitis;   Desquamative Interstitial Pneumonia
Interventions: Other: Aerobic Exercise Training;   Other: Education
25 Recruiting Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years
Condition: Ataxic Infantile Cerebral Palsy
Intervention: Biological: stem cell (MNCs )
26 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
27 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
28 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:
29 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:
30 Not yet recruiting STRIDE Biorepository
Condition: Anemia, Sickle Cell
Intervention: Procedure: Blood draw
31 Recruiting Study of the Prevalence of Fabry Disease in French Dialysis Patients
Conditions: Fabry Disease;   End Stage Renal Disease;   Renal Dialysis
Intervention: Biological: Dried blood spot (DBS) sampling
32 Not yet recruiting GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3
Condition: Gaucher Disease
Interventions: Drug: GZ/SAR402671;   Drug: Imiglucerase
33 Recruiting Wolfram Syndrome International Registry and Clinical Study
Conditions: Wolfram Syndrome;   Diabetes Mellitus;   Optic Nerve Atrophy;   Deafness;   Diabetes Insipidus;   Ataxia
Intervention:
34 Recruiting Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
Condition: Psychiatric Adults Patients
Interventions: Biological: Blood sampling;   Biological: Biopsy
35 Recruiting The Effect of Gladskin on Disease Severity and the Skin Microbiome, Including Staphylococcus Aureus, in Patients With Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Device: Staphefekt SA.100;   Other: Placebo
36 Recruiting A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Condition: Friedreich's Ataxia
Interventions: Procedure: Cardiac magnetic resonance imaging (CMR);   Procedure: Exercise-stress test;   Procedure: Echocardiography (ECHO);   Procedure: Cardiac-related blood studies
37 Not yet recruiting Impact of Elastin Mediated Vascular Stiffness on the Brain
Conditions: Williams Syndrome;   Supravalvular Aortic Stenosis;   Cardiovascular Disease
Intervention:
38 Not yet recruiting Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Dermal Neurofibroma
Conditions: Appearance Distress;   Bothered by Itching Skin;   Cafe Au Lait Spot;   Cutaneous Neurofibroma;   Disfigurement;   Dysplasia;   Neurofibromatosis Type 1;   NF1 Gene Mutation;   Optic Nerve Glioma
Interventions: Other: Laboratory Biomarker Analysis;   Drug: Selumetinib
39 Recruiting Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices
Condition: Pompe Disease
Intervention:
40 Recruiting Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
Condition: Retinitis Pigmentosa
Intervention: Drug: levodopa-carbidopa

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Indicates status has not been verified in more than two years