1963 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
Intervention:
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 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 )
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
Intervention:
26 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
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
Intervention:
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
Intervention:
29 Not yet recruiting Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
Conditions: Myotonic Dystrophy 1;   Steinert Disease
Intervention: Device: Non Invasive Ventilation.
30 Recruiting Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism
Conditions: Kallmann Syndrome;   Hypogonadotropic Hypogonadism
Interventions: Drug: Human Menopausal Gonadotropin;   Drug: Human Chorionic Gonadotropin
31 Not yet recruiting Screening in Oculopharyngeal Muscular Dystrophy
Condition: Oculopharyngeal Muscular Dystrophy
Interventions: Device: Iowa Oral Performance Instrument;   Drug: Capsaicin;   Device: Electrical Impedance Myography (EIM);   Procedure: Videofluoroscopic swallowing study;   Other: Swallowing Related Quality of Life Questionnaire;   Other: Functional Oral Intake Scale;   Other: Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised;   Other: Eating Assessment Tool-10;   Other: Communicative Effectiveness Survey;   Other: The Center for Neurologic Studies Bulbar Function Scale
32 Not yet recruiting A Study of the Effects of Lumacaftor/Ivacaftor on Exercise Tolerance in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
Condition: Cystic Fibrosis
Interventions: Drug: LUM/IVA;   Drug: Placebo
33 Not yet recruiting Protection of Autonomic Nervous System During Lower Spine Surgical Procedures: A Safety and Feasibility Study
Conditions: Intervertebral Disc Degeneration;   Intervertebral Disc Displacement;   Spinal Curvatures;   Spinal Stenosis;   Spondylitis;   Spondylosis;   Osteoarthropathy, Primary Hypertrophic;   Spinal Neoplasms
Intervention: Device: Autonomic nervous system monitoring
34 Recruiting Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
Condition: Trisomy 21
Intervention: Genetic: Diagnostic
35 Not yet recruiting Pubertal Induction in Individuals With Hypogonadism
Conditions: Primary Amenorrhoea;   Hypothalamic Amenorrhoea;   Hypogonadotrophic Hypogonadism;   Hypopituitarism;   Turner's Syndrome;   Primary Ovarian Insufficiency
Intervention: Drug: Routine transdermal oestrogen patch
36 Recruiting Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
Condition: Primary Ciliary Dyskinesia
Interventions: Drug: VX-371;   Drug: Hypertonic Saline;   Drug: Placebo (0.17% saline)
37 Not yet recruiting A Trial of a Botanical Drug Product Containing East Indian Sandalwood Oil (EISO) For Treatment of Atopic Dermatitis
Conditions: Atopic Dermatitis;   Eczema
Interventions: Drug: SAN007;   Drug: Placebo
38 Recruiting Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema
Condition: Hereditary Angioedema (HAE)
Interventions: Drug: BCX7353;   Drug: Placebo
39 Recruiting Familial Hypercholesterolemia Amongst Patients With Acute Coronary Syndrome
Conditions: Familial Hypercholesterolemia;   Cardiac Event;   Acute Coronary Syndrome
Intervention: Other: Registry
40 Not yet recruiting Effectiveness of Psychological Interventions in Haemophilia
Condition: Haemophilia
Interventions: Behavioral: Hypnosis;   Behavioral: Cognitive-Behavioral Therapy

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Indicates status has not been verified in more than two years