Clinical Research Alert: Observational Study in Female Carriers of SMA and Their Biological Children

Researchers at Natera are seeking female carriers of spinal muscular atrophy (SMA) and their affected or unaffected biological children for an observational study (DYADS study). This study will collect blood samples and health information from participating pairs (mother and child). Findings from this study could help in development of non-invasive prenatal screening tools for SMA.

The study

This is an observational study and does not involve a new intervention. Enrolled participants will be asked to provide informed consent over the phone and will then receive a one-time visit by a mobile phlebotomist who will perform a blood draw on both the enrolled female carrier of SMA and her affected or unaffected child (in some cases a cheek swab for the child will be accepted). The study team will also request participant health records, which may take several weeks to obtain.

Study criteria

To be eligible, individuals must meet the following inclusion criteria:

• A carrier female with a biological affected or unaffected child.
  • Eligible female carriers – Must reside in the United State, be 18 years or older, have screened positive as a carrier for one or more inherited genetic conditions, are not currently pregnant, and are able and willing to sign informed consent.
  • Biological child – Must reside in the United States.
    • Children who are 17 years or younger – Able and willing to provide assent, when applicable and weigh 10 kg (22 lbs) or higher if a blood sample is collected.
    • Adult >18 biological child/children – Able and willing to sign informed consent.

Individuals may not be eligible to participate if they do not meet the criteria of a dyad sample (carrier female and biological child).

Interested in participating?

To learn more or inquire about participation, visit the sponsor’s website or contact the Study Coordinator by phone: 650-674-4662 or email: DYADS@natera.com.