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1980 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Condition: Hereditary Disease
22 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
23 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
24 Unknown  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 )
25 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
26 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
27 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
28 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
29 Not yet recruiting Drug Use Investigation of Kovaltry in Hemophilia A Patients
Condition: Hemophilia A
Intervention: Drug: Kovaltry (Antihemophilic Factor [Recombinant], BAY81-8973)
30 Recruiting Evaluating the Pharmacokinetics of NovoEight® (Turoctocog Alfa) in Relation to BMI in Subjects With Haemophilia A
Condition: Haemophilia A
Intervention: Drug: turoctocog alfa
31 Recruiting SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4
Conditions: Spinal Muscular Atrophy;   SMA;   Kugelberg-Welander Disease
Interventions: Drug: Pyridostigmine;   Drug: Placebo
32 Available Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR)
Conditions: TTR-mediated Amyloidosis;   Amyloidosis, Hereditary;   Amyloid Neuropathies, Familial;   Familial Amyloid Polyneuropathies;   Amyloid Neuropathies;   Amyloidosis, Hereditary, Transthyretin-Related
Intervention: Drug: patisiran (ALN-TTR02)
33 Not yet recruiting Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
34 Not yet recruiting An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio
Condition: Apparent Mineralocorticoid Excess
Intervention: Dietary Supplement: Liquorice
35 Not yet recruiting Efficacy and Safety of Turoctocog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Chinese Patients With Haemophilia A
Conditions: Congenital Bleeding Disorder;   Haemophilia A
Intervention: Drug: turoctocog alfa
36 Not yet recruiting UK - EHL Outcomes Registry
Conditions: Hemophilia A;   Hemophilia B
37 Not yet recruiting RIXUBIS Drug Use-Result Survey (Japan)
Condition: Hemophilia B
Intervention: Biological: RIXUBIS
38 Not yet recruiting Effects of N-acetyl Cystein (NAC) Supplementation in G6PD Deficient Individuals After Acute Exercise
Condition: G6PD Deficiency
Interventions: Drug: N-acetyl cystein;   Other: Placebo
39 Not yet recruiting Effects of Alpha Lipoic Acid Supplementation in G6PD Deficient Individuals After Acute Exercise
Condition: G6PD Deficiency
Interventions: Dietary Supplement: Alpha-lipoic acid;   Other: Placebo
40 Not yet recruiting Brain Network Activation and Gait and Posture in FXTAS
Conditions: Fragile X Associated Tremor-ataxia Syndrome;   FXTAS

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Indicates status has not been verified in more than two years