4893 studies found for:    "Genetic Diseases, Inborn" [DISEASE]
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Rank Status Study
21 Completed Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy
Conditions: Polyneuropathies;   Amyloidosis;   Amyloid Neuropathies;   Amyloidosis, Familial;   Metabolic Diseases
Intervention:
22 Completed
Has Results
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
Condition: Cystic Fibrosis
Interventions: Drug: Ivacaftor;   Drug: Placebo
23 Completed PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1
Condition: Intercritical Gout
Intervention: Drug: rilonacept
24 Completed
Has Results
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
Condition: Cystic Fibrosis
Interventions: Drug: Ivacaftor;   Drug: Placebo
25 Completed PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
Condition: Gout
Interventions: Drug: placebo;   Drug: rilonacept
26 Recruiting Biomarker for Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
27 Completed Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis
Conditions: Familial Adenomatous Polyposis;   Duodenal Neoplasms;   Duodenal Polyps
Interventions: Drug: Celecoxib;   Drug: Ursodeoxycholic acid;   Drug: Placebo
28 Recruiting Biomarker for Pompe Disease
Conditions: Lysosomal Storage Diseases;   Pompe Disease
Intervention:
29 Completed Intracerebral Gene Therapy for Sanfilippo Type A Syndrome
Conditions: Mucopolysaccharidosis Type III A;   Sanfilippo Disease Type A
Intervention: Genetic: SAF-301
30 Completed An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196
Condition: Huntington's Disease
Interventions: Drug: SEN0014196 (Low Dose);   Drug: SEN0014196 (High Dose);   Drug: Placebo
31 Completed Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
Condition: Gaucher Disease
Intervention: Procedure: Blood sample
32 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
33 Active, not recruiting Open-label, Single-arm Study to Assess the Pharmacokinetics, Safety, and Tolerability of a Single Subcutaneous Dose of Icatibant in Healthy Japanese Volunteers
Condition: Hereditary Angioedema (HAE)
Intervention: Drug: Icatibant (30 mg)
34 Active, not recruiting Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
Conditions: Mucopolysaccharidosis Type III A;   Sanfilippo Disease Type A
Intervention: Genetic: SAF-301
35 Completed A Open-label Food Effect Study With SEN0014196 in Subjects With Huntington Disease
Condition: Huntington's Disease
Intervention: Drug: SEN0014196
36 Active, not recruiting Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
Condition: MPS IIIB (Sanfilippo B Syndrome)
Intervention:
37 Recruiting Biomarker for Krabbe Disease
Conditions: Lysosomal Storage Diseases;   Krabbe Disease
Intervention:
38 Recruiting Safety and Efficacy Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency
Condition: Lysosomal Acid Lipase Deficiency
Intervention: Drug: sebelipase alfa
39 Completed Study of VX-809 in Cystic Fibrosis Subjects With the ∆F508-CFTR Gene Mutation
Condition: Cystic Fibrosis
Interventions: Drug: VX-809;   Drug: VX-809 Placebo
40 Completed Pharmacokinetics and Safety Study of Single and Multiple Oral Doses Prodarsan™ in Patients With Cockayne Syndrome
Condition: Cockayne Syndrome
Intervention: Drug: Prodarsan

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Indicates status has not been verified in more than two years