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Parent, carrier, and patient perspectives on prenatal testing and family planning in the era of gene therapy for spinal muscular atrophy (SMA)

Spinal Muscular Atrophy | Survey | Family Planning | Gene Therapy

For parents of children with spinal muscular atrophy (SMA), known SMA carriers, and adult patients, thoughts about carrier testing, prenatal testing, and reproductive decision-making exist at a nexus. The recent availability of a promising new gene therapy adds further complexity. Little is known about the knowledge and attitudes of these individuals in this area; understanding their views will help us better care for SMA patients.

In this dual-phase study (survey followed by interviews), we aim to address this knowledge gap and explore the knowledge and attitudes of parents of affected individuals, adult SMA carriers, and adult SMA patients related to gene therapy, carrier screening, prenatal testing, and family planning.

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Participation Requirements

  • Sex:

    Any

  • Eligible Ages:

    18 and up

Participation Criteria

Inclusion Criteria:
Adults aged 18 years or older who have experience with SMA type I, type II, or type III. This includes:
- Adults parents of individuals with SMA.
- Adults who are known carriers of SMA.
- Adult SMA patients.

Additional inclusion criteria include:
- Having received care or counselling related to SMA (including related to gene therapy, carrier testing, prenatal testing) form a provider anywhere in Canada.
- Ability to communicate in English.

There are NO sex, gender, or other exclusion criteria.
Exclusion Criteria:
- Individuals with no experience with SMA (i.e., people who are not parents of individuals diagnosed with SMA, who are not adults that are known carriers of SMA, and who are not adults SMA patients).
- Children aged younger than 18 years.
- Individuals who have never received SMA-related care or counselling in Canada.
- Individuals who are unable to communicate in English.

Study Location

University of Alberta
University of Alberta
Edmonton, Alberta
Canada

Contact Study Team

Primary Contact

Alexandra Cernat

[email protected]
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Primary Contact

Dr Oana Caluseriu

[email protected]
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Study Sponsored By
University of Alberta
Participants Required
More Information
Study ID: Pro00154324