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PRESMAREG: Prenatal Spinal Muscular Atrophy Registry

About this study 

Spinal muscular atrophy (SMA) is a rare genetic disease that causes muscles to become weak. Some babies are diagnosed with SMA before birth through genetic tests. A small number of babies have received SMA treatment before birth, but doctors do not yet know much about the long-term results. This study is needed to learn more about these children and their mothers.  

PRESMAREG is a registry for families whose babies were diagnosed with SMA during pregnancy and received treatment before birth. Researchers will collect information from: 

  • Medical records 
  • Surveys 
  • Interviews with mothers    

Researchers will study what happened during pregnancy and delivery. They hope to learn about the health of mothers who received treatment during pregnancy. They will also learn about the health and development of children who received treatment before birth. 

Children will be followed through their first 3 years of life. Researchers will track growth, development, movement skills, and other health outcomes. The study will not test a new treatment. Instead, it will collect information about treatments that have already been given.  

Information from this registry may help doctors better care for families facing an SMA diagnosis during pregnancy. Researchers hope to learn more about the safety of prenatal SMA treatment and whether it improves long-term outcomes for children with SMA. 

Eligibility overview 

  • All ages 
  • Mother of a baby diagnosed with spinal muscular atrophy (SMA) before birth  
  • Received SMA treatment during pregnancy to treat the unborn baby  

Request a referral

The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.

Overview

Full title:

PRESMAREG: A Registry of Cases of Spinal Muscular Atrophy Diagnosed in the Prenatal Period that Received Disease-Modifying Therapy

Study goal:

To learn about the health and development of children with SMA treated before birth and their mothers

Diagnosis:

Spinal muscular atrophy (SMA)

Age:

All ages

Clinical trial categories:

Spinal Muscular Atrophy (SMA)

For physicians and researchers

Patients accepted to St. Jude must be referred by a physician or other qualified medical professional. Learn how St. Jude can partner with you to care for your patient.

 

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