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Search clinical trials for: Pathogenic Mutations

Total 1242 results

NCT06633757

Completed

Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance

Primary Ciliary Dyskinesia (PCD)
NCT03605069

Terminated

A Double-blind, Randomized, Intra-subject Placebo-controlled, Multicenter, Multiple Dose Study, Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With Confirmed DDEB or RDEB Diagnosis With One or More Pathogenic Mutations in Exon 73 in the COL7A1 Gene

Epidermolysis Bullosa Dystrophica, Recessive | Epidermolysis Bullosa Dystrophica, Dominant
NCT04700813

Unknown

Research Study for Rare Pathogenic Mutations Causing Type 2 Diabetes and Complications (PreciDiag)

Diabete Type 2
NCT03726424

Unknown

Outcome of Different Pathogenic Mutations in Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy
NCT03396341

Recruiting

Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes

Genetic Testing | BRCA1/2

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