February 2, 2022
Genetic Confirmation: A Step You Can’t Afford to Get Wrong
Neuromuscular disorders (NMDs) are frequently caused by genetic mutations. However, the genetic causes of Duchenne muscular dystrophy (DMD), Spinal Muscular Atrophy (SMA), and other rare NMDs are often difficult to interpret due to differences in laboratory reporting, evolving genetics technology, and complex biological basis. Correctly identifying eligible participants and standardizing the collection of participants’ genetic genotype (i.e., genetic mutation) is key for clinical trials in rare NMD disorders. As these trials seek to answer complex questions with small numbers of participants, a misunderstanding of a genotype could lead to major problems. Screen failing an eligible participant or enrolling an ineligible participant threaten a project through inefficiencies and/or unsound scientific conclusions. Inconsistently or poorly collected data about participants’ mutation could prevent study analyses related to genotype.
It is critical to interpret the underlying genetics for every potential participant for a rare disease clinical trial accurately, consistently, and efficiently. The most efficient strategy is to use a central study-wide process for expert genetic review because sites’ access to genetic counselors, methods of review, and interpretation may vary widely. Central review removes this source of variation and ensures every participant’s eligibility is reviewed the same way every time.
TRiNDS Genetic Confirmation services provides central review of genetic testing results for rare NMD clinical trials. Our in-house team of licensed genetic counselors are subject matter experts (SMEs) in NMD genetics. They bring specialized experience in DMD, Becker muscular dystrophy (BMD), Pompe Disease, and other NMDs. Our genetic counselors work alongside sponsors throughout the trial planning and execution process, developing customized trial procedures guided by TRiNDS’ standard operating procedures (SOPs). Our Genetic Confirmation team can help you design protocols, establish study procedures for central review, and collaborate with data management teams to properly collect and clean genetic data in your electronic data capture (EDC) systems.
TRiNDS is a contract research organization (CRO) dedicated to conducting rare and neuromuscular disease research. We offer central expert genetic confirmation services to sponsors conducting clinical trials throughout the development process. We customize services to each project to meet its unique needs. Contact TRiNDS today to learn more about how TRiNDS can help your project succeed.