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Breakthrough in Prenatal SMA Therapy

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Manage episode 469968261 series 2280622
Content provided by Dr. Chapa’s Clinical Pearls. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Dr. Chapa’s Clinical Pearls or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://staging.podcastplayer.com/legal.

Screening for spinal muscular atrophy (SMA) should be offered to all women who are considering pregnancy or are currently pregnant. SMA is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscle and overall weakness. Once identified, oral therapy may be started in the neonatal interval for those with the most severe phenotype (SMA-1). However, on Feb 19, 2025, a medical team piloted an investigational PRENATAL protocol as treatment starting in utero! While more data is needed, the results have been incredible. In this episode we will highlight this fascinating therapy which was "parent proposed". Listen in for details!

  continue reading

1006 episodes

Artwork
iconShare
 
Manage episode 469968261 series 2280622
Content provided by Dr. Chapa’s Clinical Pearls. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Dr. Chapa’s Clinical Pearls or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://staging.podcastplayer.com/legal.

Screening for spinal muscular atrophy (SMA) should be offered to all women who are considering pregnancy or are currently pregnant. SMA is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscle and overall weakness. Once identified, oral therapy may be started in the neonatal interval for those with the most severe phenotype (SMA-1). However, on Feb 19, 2025, a medical team piloted an investigational PRENATAL protocol as treatment starting in utero! While more data is needed, the results have been incredible. In this episode we will highlight this fascinating therapy which was "parent proposed". Listen in for details!

  continue reading

1006 episodes

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