1832 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 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
22 Not yet recruiting To Assess the Safety, Tolerability and Pharmacokinetics of AZD5634 Following Inhaled and Intravenous (IV)Dose Administration
Condition: Cystic Fibrosis
Interventions: Drug: AZD5634 for inhalation;   Drug: AZD5634 for infusion;   Other: Placebo
23 Recruiting Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
Condition: Tourette Syndrome
Interventions: Drug: NBI-98854;   Drug: Placebo
24 Not yet recruiting Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor
Condition: Fanconi Anemia
Intervention: Drug: G-CSF and Plerixafor
25 Not yet recruiting Nonmyeloablative Conditioning for Mismatched Hematopoietic Stem Cell Transplantation for Severe Sickle Cell Disease
Condition: Sickle Cell Disease
Interventions: Drug: Alemtuzumab;   Drug: Cyclophosphamide;   Drug: Mycophenolate mofetil;   Drug: Sirolimus;   Drug: Fludarabine;   Radiation: Total body irradiation;   Procedure: Hematopoietic stem cell transplant
26 Not yet recruiting The Effectiveness of Kuvan in Amish PKU Patients
Condition: Phenylketonuria
Interventions: Drug: saproterin dihydrochloride;   Other: Diet treatment
27 Not yet recruiting Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF
Condition: Cystic Fibrosis
Interventions: Drug: azithromycin;   Drug: placebo (for azithromycin);   Drug: inhaled tobramycin
28 Not yet recruiting Myeloablative Conditioning and Haplo AlloSCT for Patients With Sickle Cell Disease
Condition: Sickle Cell Disease
Intervention: Drug: Defibrotide
29 Not yet recruiting Low Dose Hydroxyurea for Secondary Stroke Prevention in Children With Sickle Cell Disease in Sub-Saharan Africa
Conditions: Sickle Cell Disease;   Sickle Cell Anemia;   Stroke
Interventions: Drug: Moderate Dose Hydroxyurea;   Drug: Low Dose Hydroxyurea
30 Recruiting First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
Condition: Pompe Disease
Interventions: Drug: ATB200;   Drug: AT2221
31 Recruiting GAS-Hem Feasibility Study
Condition: Hemophilia A
Intervention: Biological: Factor VIII
32 Recruiting Efficacy and Safety of HuZhen Capsule for Treatment of Patients With Acute Gout
Condition: Acute Gout
Interventions: Drug: HuZhen Capsule;   Drug: Placebo Capsule
33 Recruiting the Potential Immunomodulatory Effects of Spirulina on Thalassemic Children
Condition: Beta Thalassemia Major
Intervention: Dietary Supplement: Spirulina
34 Recruiting Efficacy, Safety, and Tolerability Study of RP-G28 in Subjects With Lactose Intolerance
Condition: Lactose Intolerance
Interventions: Drug: RP-G28;   Other: Placebo
35 Not yet recruiting A Study of SANGUINATE for the Treatment of Vaso-occlusive Crisis (VOC) in Adult Sickle Cell Disease Patients
Condition: Anemia, Sickle Cell
Interventions: Drug: SANGUINATE 320 mg/kg;   Drug: Normal Saline
36 Not yet recruiting Tradipitant in Treatment-Resistant Pruritus Associated With Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Drug: Tradipitant;   Other: Placebo
37 Recruiting Effect of Spirulina Compared to Amlodipine on Cardiac Iron Overload in Children With Beta Thalassemia
Condition: Beta Thalassemia Major
Interventions: Drug: Spirulina;   Drug: Amlodipine
38 Recruiting Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy
Conditions: Retinitis Pigmentosa;   Cone Rod Dystrophy;   Choroideremia
Intervention: Device: Intelligent Retinal Implant System
39 Not yet recruiting Urease Inhibitor Drug Treatment for Urea Cycle Disorders
Conditions: Ornithine Transcarbamylase Deficiency;   Argininosuccinate Synthetase Deficiency (Citrullinemia);   Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria);   Carbamyl-Phosphate Synthase I Deficiency
Interventions: Drug: Acetohydroxamic Acid;   Drug: Isotopic Intravenous [13C]-Urea
40 Not yet recruiting Study of Cellutome System for Treatment of Individual Lesions in EB Pts
Condition: Epidermolysis Bullosa
Intervention: Device: Cellutome Epidermal Harvesting System

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Indicates status has not been verified in more than two years