1770 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
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 Sensory Processing in Tourette Syndrome
Condition: Tourette Syndrome
Interventions: Other: The Sensory Profile;   Other: The Adult/Adolescent Sensory Profile;   Other: Children's Yale-Brown Obsessive Compulsive Scale;   Other: Yale-Brown Obsessive Compulsive Scale;   Other: Yale Global Tic Severity Scale;   Other: Demographic Data
24 Recruiting Swiss Hemophilia Registry
Condition: Hemophilia and Other Severe Bleeding Disorders
Intervention: Other: Registry
25 Not yet recruiting Validation of Questionnaires HAL and HEP
Condition: Haemophilia
Intervention:
26 Recruiting Web-MAP Intervention for Youth With Sickle Cell Disease
Condition: Sickle Cell Disease
Interventions: Behavioral: WEB-MAP Educational Control Group;   Behavioral: WEB-MAP CBT
27 Recruiting A Pilot Study Assessing Impulsivity in Patients With Huntington's Disease on Xenazine (Tetrabenazine)
Condition: Huntington's Disease
Intervention: Drug: Tetrabenazine
28 Not yet recruiting A Phase 2 Study to Evaluate Effects of VX-661/Ivacaftor on Lung and Extrapulmonary Systems in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
Condition: Cystic Fibrosis
Interventions: Drug: VX-661/ivacactor;   Drug: ivacaftor;   Drug: VX-661/ ivacaftor matching placebo;   Drug: ivacaftor matching placebo
29 Not yet recruiting Tolerability, Safety, and Activity of SRX246 in Irritable Subjects With Huntington's Disease
Conditions: Irritable Mood;   Huntington's Disease
Interventions: Drug: SRX246;   Drug: Placebo
30 Not yet recruiting Subtle Myocardial Deformation Abnormalities in Asymptomatic Nf-1 Patients
Condition: Neurofibromatosis Type 1
Intervention:
31 Recruiting Everolimus Therapy in People With Birt-Hogg-Dube Syndrome (BHD)-Associated Kidney Cancer or Sporadic Chromophobe Renal Cancer
Conditions: Renal Cancer;   Chromophobe Renal Cell Carcinoma;   Birt-Hogg-Dube Syndrome
Intervention: Drug: Everolimus
32 Recruiting Natural History and Genetics of Food Allergy and Related Conditions
Conditions: Food Allergy;   Loeys-Dietz Syndrome
Intervention:
33 Not yet recruiting Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis
Condition: Cystic Fibrosis
Intervention: Drug: Ceftazidime/avibactam
34 Recruiting Allogeneic SCT of CordIn™, in Patients With Hemoglobinopathies
Conditions: Sickle Cell Disease;   Thalassemia
Intervention: Biological: CordIn
35 Recruiting A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease
Condition: Antitrypsin Deficiency Liver Disease
Interventions: Drug: ALN-AAT;   Drug: Sterile Normal Saline (0.9% NaCl)
36 Recruiting "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"
Conditions: Congenital Heart Diseases;   Conotruncal Defects;   Congenital Disorder of Glycosylation;   Antithrombin III Deficiency
Intervention: Other: none intervention
37 Recruiting Natural History Study of Factor IX Treatment and Complications
Condition: Factor IX Deficiency
Intervention: Other: Standard care with blood and urine sample collection
38 Not yet recruiting Environment Effect on Six-Minute Walk Test Performance
Conditions: Chronic Obstructive Pulmonary Disease;   Alpha-1 Antitrypsin Deficiency
Interventions: Other: six-minute walk study indoors;   Other: six-minute walk study outdoors
39 Not yet recruiting Pharmacokinetics and Safety of rFVIIIFc Manufactured at 15,000 L (15K) Scale
Condition: Severe Hemophilia A
Intervention: Biological: rFVIIIFc
40 Not yet recruiting MRI in Patients With Kennedy Disease
Conditions: Bulbo-Spinal Atrophy, X-Linked;   Kennedy Disease
Intervention: Other: No intervention, observational

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Indicates status has not been verified in more than two years