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Search clinical trials for: Pathogenic Mutation

Total 4063 results

NCT07691827

Recruiting

Maternal Inheritance of a Pathogenic MT-ND1 Mutation Causes Mitochondrial Dysfunction and Spermatogenic Failure in Men (MTND1-INA/C)

Azoospermia, Nonobstructive | Cryptozoospermia
NCT04858334

Recruiting

APOLLO: A Randomized Phase II Double-Blind Study of Olaparib Versus Placebo Following Curative Intent Therapy in Patients With Resected Pancreatic Cancer and a Pathogenic BRCA1, BRCA2 or PALB2 Mutation

Pancreatic Acinar Cell Carcinoma | Pancreatic Adenosquamous Carcinoma | Pancreatic Squamous Cell Carcinoma | Resectable Pancreatic Acinar Cell Carcinoma | Resectable Pancreatic Adenocarcinoma | Resectable Pancreatic Adenosquamous Carcinoma | Resectable Pancreatic Carcinoma
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
NCT04812938

Unknown

Exploiting Pathogenic Tp53 Mutation for Early Diagnosis of Ovarian Cancer by Mean of Papanicolau Test (PAPAudit)

Ovarian Cancer

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