1753 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 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:
22 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
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
Intervention: Other: Aerobic Exercise Training
24 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:
25 Recruiting A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)
Condition: Late-onset Pompe Disease
Intervention: Procedure: Respiratory muscle strength measurements by different techniques.
26 Recruiting Thalamic Deep Brain Stimulation for the Treatment of Refractory Tourette Syndrome
Condition: Tourette Syndrome
Intervention: Device: Medtronic Activa Deep Brain Stimulation System
27 Unknown  Glucose Metabolic, Amyloid, and Tau Brain Imaging in Down Syndrome and Dementia
Conditions: Down Syndrome;   Alzheimer's Disease
Intervention:
28 Not yet recruiting Exploratory Evaluation of AR-42 Histone Deacetylase Inhibitor in the Treatment of Vestibular Schwannoma and Meningioma
Conditions: Vestibular Schwannoma;   Meningioma;   Acoustic Neuroma;   Neurofibromatosis Type 2
Intervention: Drug: AR-42
29 Recruiting Risk of Diabetes in Young Turner Syndrome Patients
Condition: Turner Syndrome
Intervention:
30 Recruiting Oral DS107G in Moderate to Severe Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Drug: DS107G;   Drug: Placebo
31 Recruiting Ex Vivo Laboratory Assays Application for Therapy Tailoring in Patients With Severe Bleeding Disorders
Condition: Severe Hemophilia
Intervention:
32 Unknown  The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy
Conditions: Muscular Dystrophy;   Dilated Cardiomyopathy;   Heart Failure
Intervention:
33 Recruiting Effects of Treatments on Atopic Dermatitis
Condition: Dermatitis, Atopic
Interventions: Drug: Trimethoprim/sulfamethoxazole (TMP/SMZ);   Drug: Cephalexin;   Drug: Doxycycline;   Other: Sodium hypochlorite
34 Unknown  Fanconi Anemia Transplant Lacking Genotypically Identical Donor
Condition: Fanconi Anemia
Intervention: Device: Miltenyi CliniMACs device
35 Not yet recruiting Non-drug Study to Assess the Suitability of Assessment Scales in Japanese Individuals With Down Syndrome Aged 6-30
Condition: Down Syndrome
Intervention:
36 Not yet recruiting Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population
Condition: Glycogen Storage Disease
Intervention: Device: Diabetes Sentry
37 Recruiting An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency
Condition: Congenital Fibrinogen Deficiency
Intervention: Biological: FCH
38 Recruiting Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy
Condition: Duchenne Muscular Dystrophy
Intervention: Drug: Prednisolone
39 Recruiting Treadmill Walking in Individuals With Dementia With Lewy Bodies and Huntington's Disease
Conditions: Huntington Disease;   Lewy Body Disease
Intervention: Other: Treadmill Walking
40 Recruiting Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping
Condition: Duchenne Muscular Dystrophy
Intervention:

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Indicates status has not been verified in more than two years