Branaplam (development codes LMI070 and NVS-SM1) is a

pyridazine Pyridazine is an aromatic, heterocyclic, organic compound with the molecular formula . It contains a six-membered ring with two adjacent nitrogen atoms. It is a colorless liquid with a boiling point of 208 °C. It is isomeric with two other ...

derivative In mathematics, the derivative of a function of a real variable measures the sensitivity to change of the function value (output value) with respect to a change in its argument (input value). Derivatives are a fundamental tool of calculus. ...

that is being studied as an

experimental drug An experimental drug is a medicinal product (a drug or vaccine) that has not yet received approval from governmental regulatory authorities for routine use in human or veterinary medicine. A medicinal product may be approved for use in one diseas ...

. It was originally developed by

Novartis Novartis AG is a Swiss-American multinational pharmaceutical corporation based in Basel, Switzerland and Cambridge, Massachusetts, United States (global research).name="novartis.com">https://www.novartis.com/research-development/research-loc ...

to treat spinal muscular atrophy (SMA); since 2020 it is being developed to treat

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an uns ...

(HD). As a treatment for SMA, branaplam increases the amount of functional

survival of motor neuron Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the '' SMN1'' and '' SMN2'' genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional r ...

protein produced by the ''SMN2'' gene through modifying its splicing pattern. It was studied since 2014 in a

clinical trial Clinical trials are prospective biomedical or behavioral research studies on human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel vaccines, drugs, diet ...

in children with SMA type 1 until the programme was discontinued in 2021. In October 2020, Novartis announced that branaplam lowers the level of huntingtin protein, which is one of the major therapeutic approaches in Huntington's disease. In 2021,

U.S. Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food ...

(FDA) granted an orphan drug status to branaplam for treatment of Huntington’s disease, and Novartis announced that they will set up clinical trials in 2021. In December 2021, branaplam received a Fast Track designation from the FDA towards a phase IIb study in adult patients with early-stage HD manifestation. Branaplam tautomers

References

Spinal muscular atrophy Experimental drugs Novartis brands Pyrazoles Piperidines {{musculoskeletal-drug-stub