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Gene Mutations clinical trials

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NCT ID: NCT06462547 Not yet recruiting - Clinical trials for Pseudoxanthoma Elasticum

ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency

Start date: June 2024
Phase: Phase 2
Study type: Interventional

The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to continue dosing for the potential treatment of their condition.

NCT ID: NCT03451877 Completed - High Myopia Clinical Trials

TGFB1 And LAMA1 Gene Polymorphisms in High Myopia

Start date: December 1, 2012
Phase: N/A
Study type: Interventional

The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications. Seventy-four children with high myopia (≥6 diopters [D]; study group) and 77 emmetropic children (±0.5D; control group) were included. Genetic and polymorphism analyses were performed in the Medical Genetics Laboratory using DNA purified from the patients' blood samples.