1538 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
22 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:
23 Not yet recruiting The Effect of Vitamin D on Lung Function in Patients With Cystic Fibrosis
Condition: Cystic Fibrosis
Intervention: Dietary Supplement: Vitamin D
24 Recruiting Effects of Treatments on Atopic Dermatitis
Condition: Dermatitis, Atopic
Interventions: Drug: Trimethoprim/sulfamethoxazole (TMP/SMZ);   Drug: Cephalexin;   Drug: Doxycycline;   Other: Sodium hypochlorite
25 Unknown  Glucose Metabolic, Amyloid, and Tau Brain Imaging in Down Syndrome and Dementia
Conditions: Down Syndrome;   Alzheimer's Disease
Intervention:
26 Unknown  Fanconi Anemia Transplant Lacking Genotypically Identical Donor
Condition: Fanconi Anemia
Intervention: Device: Miltenyi CliniMACs device
27 Unknown  Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
Condition: Primary Ciliary Dyskinesia
Intervention:
28 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.
29 Recruiting Risk of Diabetes in Young Turner Syndrome Patients
Condition: Turner Syndrome
Intervention:
30 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
31 Recruiting Treadmill Walking in Individuals With Dementia With Lewy Bodies and Huntington's Disease
Conditions: Huntington Disease;   Lewy Body Disease
Intervention: Other: Treadmill Walking
32 Recruiting A Linkage and Association Study in Pulmonary Fibrosis
Conditions: Idiopathic Pulmonary Fibrosis;   Familial Pulmonary Fibrosis;   Idiopathic Interstitial Pneumonia;   Familial Interstitial Pneumonia
Intervention:
33 Recruiting Thalamic Deep Brain Stimulation for the Treatment of Refractory Tourette Syndrome
Condition: Tourette Syndrome
Intervention: Device: Medtronic Activa Deep Brain Stimulation System
34 Recruiting Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy
Condition: Duchenne Muscular Dystrophy
Intervention: Drug: Prednisolone
35 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
36 Recruiting Oral DS107G in Moderate to Severe Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Drug: DS107G;   Drug: Placebo
37 Unknown  RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum
Condition: Cystic Fibrosis
Intervention: Drug: Pulmozyme
38 Recruiting Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping
Condition: Duchenne Muscular Dystrophy
Intervention:
39 Not yet recruiting Assess the Efficacy and Safety of Personalized Prophylaxis Human-cl rhFVIII in Patients With Severe Haemophilia A
Condition: Severe Haemophilia A
Intervention: Biological: Human cl rhFVIII
40 Unknown  The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy
Conditions: Muscular Dystrophy;   Dilated Cardiomyopathy;   Heart Failure
Intervention:

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Indicates status has not been verified in more than two years