Branaplam
An investigational drug for the treatment of spinal muscular atrophy
Branaplam is an investigational drug developed for the treatment of spinal muscular atrophy (SMA), a genetic disorder characterized by the loss of motor neurons and progressive muscle wasting. Branaplam is designed to modify the splicing of the SMN2 gene, increasing the production of functional survival motor neuron (SMN) protein.
Mechanism of Action[edit | edit source]
Branaplam works by modulating the splicing of the SMN2 gene. In patients with SMA, mutations in the SMN1 gene lead to insufficient levels of SMN protein. The SMN2 gene, which is nearly identical to SMN1, can partially compensate for this deficiency. However, due to alternative splicing, most of the SMN2 transcripts lack exon 7, resulting in a truncated and unstable protein. Branaplam enhances the inclusion of exon 7 in SMN2 mRNA, thereby increasing the production of full-length, functional SMN protein.
Clinical Development[edit | edit source]
Branaplam is currently undergoing clinical trials to assess its safety and efficacy in patients with SMA. Early studies have shown promise in increasing SMN protein levels and improving motor function in affected individuals. The drug is administered orally, which is advantageous for patients, especially infants and young children, who may have difficulty with other forms of administration.
Potential Benefits[edit | edit source]
The potential benefits of Branaplam include:
- Increased production of SMN protein, which is crucial for motor neuron survival.
- Improvement in motor function and muscle strength.
- Oral administration, which is more convenient and less invasive than other treatment options.
Challenges and Considerations[edit | edit source]
While Branaplam shows promise, there are challenges and considerations in its development and use:
- Long-term safety and efficacy need to be established through ongoing clinical trials.
- The variability in response among patients due to genetic and environmental factors.
- Potential side effects and the need for monitoring during treatment.
Related pages[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
