Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy
Objective In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials. Methods A multidisciplinary team designed a questionnaire that Cure SMA electronically d...
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| Veröffentlicht in: | Prenatal diagnosis 2022-10, Vol.42 (11), p.1409-1419 |
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| creator | Schwab, Marisa E. Shao, Shirley Zhang, Li Lianoglou, Billie Belter, Lisa Jarecki, Jill Schroth, Mary Sumner, Charlotte J. MacKenzie, Tippi |
| description | Objective
In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.
Methods
A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.
Results
Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31, p |
| doi_str_mv | 10.1002/pd.6228 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10128916</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2707611789</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4348-7f78ccb9388a9e143ef6073881faec715fb7c6644bb47cf32afceec34573b2853</originalsourceid><addsrcrecordid>eNp1kV1rFDEUhoModq3iP5ABLxRkaz5mJpmrIvWrUNALvQ5nMie7KbPJmGRa9t-b6dbSFrxKcvLw8J5zCHnN6AmjlH-chpOWc_WErBjt5JpyLp6SFWXlLlTDjsiLlC4LqHgnn5Mj0VLeMcpWRJ_7K0zZbSA7v6kgZ5fnAVOVwzXEoZoiesgwVoODjQ_JpQr8UFlcanmLEaZ9ZUOs0uR8Ke3mZOYRYjHFMG33L8kzC2PCV7fnMfn99cuvs-_rix_fzs8-XaxNLWq1llYqY_pOKAUdslqgbaksL2YBjWSN7aVp27ru-1oaKzhYg2hE3UjRc9WIY3J68E5zv8PBoM8RRj1Ft4O41wGcfvjj3VZvwpUuU-CqY20xvL81xPBnLjPRO5cMjiN4DHPSXFLZMiZVV9C3j9DLMMfS_kLxpqlVy5ZI7w6UiSGliPYuDaN62ZqeBr1srZBv7oe_4_6tqQAfDsC1G3H_P4_--flG9xcPkKHz</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2725548615</pqid></control><display><type>article</type><title>Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Schwab, Marisa E. ; Shao, Shirley ; Zhang, Li ; Lianoglou, Billie ; Belter, Lisa ; Jarecki, Jill ; Schroth, Mary ; Sumner, Charlotte J. ; MacKenzie, Tippi</creator><creatorcontrib>Schwab, Marisa E. ; Shao, Shirley ; Zhang, Li ; Lianoglou, Billie ; Belter, Lisa ; Jarecki, Jill ; Schroth, Mary ; Sumner, Charlotte J. ; MacKenzie, Tippi</creatorcontrib><description>Objective
In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.
Methods
A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.
Results
Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31, p < 0.05). Older parental age and believing there had been excessive delay in diagnosis were associated with an interest in enrolling in a fetal ASO trial (OR 1.04, 7.38, respectively, p < 0.05).
Conclusion
In utero therapies are promising for severe genetic diseases. Patients with SMA and their parents view prenatal testing and therapies positively, with gene therapy being favored.
Key points
What's already know about this topic?
Optimal therapeutic outcome in many SMA patients is limited by motor neuron pathology that begins prenatally and is incompletely reversed by treatment delivered postnatally. In a preclinical model, in utero delivered therapeutics have successfully ameliorated the SMA phenotype. Involving the patient and caregiver community is crucial as we consider the pathway to a first in‐human clinical fetal therapy trial for rare diseases, such as SMA.
What does this study add?
This is the first stakeholder survey of parents and patients with SMA and offers insights into attitudes toward prenatal diagnosis, emerging fetal therapies, and clinical trials. Fetal therapies are viewed positively by the SMA community and prenatal gene therapy is the favored modality. More than half of the respondents would enroll in a phase I trial for fetal therapy (ASO or small molecule or gene therapy).</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.6228</identifier><identifier>PMID: 36029101</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Adult ; Antisense oligonucleotides ; Atrophy ; Attitude ; Attitudes ; Clinical trials ; Diagnosis ; Female ; Fetal Therapies ; Fetuses ; Gene therapy ; Genetic disorders ; Humans ; Medical diagnosis ; Muscular Atrophy, Spinal - diagnosis ; Muscular Atrophy, Spinal - genetics ; Muscular Atrophy, Spinal - therapy ; Neuromuscular diseases ; Oligonucleotides, Antisense ; Patients ; Pregnancy ; Prenatal Diagnosis ; Spinal muscular atrophy</subject><ispartof>Prenatal diagnosis, 2022-10, Vol.42 (11), p.1409-1419</ispartof><rights>2022 John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4348-7f78ccb9388a9e143ef6073881faec715fb7c6644bb47cf32afceec34573b2853</citedby><cites>FETCH-LOGICAL-c4348-7f78ccb9388a9e143ef6073881faec715fb7c6644bb47cf32afceec34573b2853</cites><orcidid>0000-0001-9217-1840</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.6228$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.6228$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,780,784,885,1416,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36029101$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schwab, Marisa E.</creatorcontrib><creatorcontrib>Shao, Shirley</creatorcontrib><creatorcontrib>Zhang, Li</creatorcontrib><creatorcontrib>Lianoglou, Billie</creatorcontrib><creatorcontrib>Belter, Lisa</creatorcontrib><creatorcontrib>Jarecki, Jill</creatorcontrib><creatorcontrib>Schroth, Mary</creatorcontrib><creatorcontrib>Sumner, Charlotte J.</creatorcontrib><creatorcontrib>MacKenzie, Tippi</creatorcontrib><title>Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Objective
In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.
Methods
A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.
Results
Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31, p < 0.05). Older parental age and believing there had been excessive delay in diagnosis were associated with an interest in enrolling in a fetal ASO trial (OR 1.04, 7.38, respectively, p < 0.05).
Conclusion
In utero therapies are promising for severe genetic diseases. Patients with SMA and their parents view prenatal testing and therapies positively, with gene therapy being favored.
Key points
What's already know about this topic?
Optimal therapeutic outcome in many SMA patients is limited by motor neuron pathology that begins prenatally and is incompletely reversed by treatment delivered postnatally. In a preclinical model, in utero delivered therapeutics have successfully ameliorated the SMA phenotype. Involving the patient and caregiver community is crucial as we consider the pathway to a first in‐human clinical fetal therapy trial for rare diseases, such as SMA.
What does this study add?
This is the first stakeholder survey of parents and patients with SMA and offers insights into attitudes toward prenatal diagnosis, emerging fetal therapies, and clinical trials. Fetal therapies are viewed positively by the SMA community and prenatal gene therapy is the favored modality. More than half of the respondents would enroll in a phase I trial for fetal therapy (ASO or small molecule or gene therapy).</description><subject>Adult</subject><subject>Antisense oligonucleotides</subject><subject>Atrophy</subject><subject>Attitude</subject><subject>Attitudes</subject><subject>Clinical trials</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Fetal Therapies</subject><subject>Fetuses</subject><subject>Gene therapy</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Medical diagnosis</subject><subject>Muscular Atrophy, Spinal - diagnosis</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Muscular Atrophy, Spinal - therapy</subject><subject>Neuromuscular diseases</subject><subject>Oligonucleotides, Antisense</subject><subject>Patients</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Spinal muscular atrophy</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kV1rFDEUhoModq3iP5ABLxRkaz5mJpmrIvWrUNALvQ5nMie7KbPJmGRa9t-b6dbSFrxKcvLw8J5zCHnN6AmjlH-chpOWc_WErBjt5JpyLp6SFWXlLlTDjsiLlC4LqHgnn5Mj0VLeMcpWRJ_7K0zZbSA7v6kgZ5fnAVOVwzXEoZoiesgwVoODjQ_JpQr8UFlcanmLEaZ9ZUOs0uR8Ke3mZOYRYjHFMG33L8kzC2PCV7fnMfn99cuvs-_rix_fzs8-XaxNLWq1llYqY_pOKAUdslqgbaksL2YBjWSN7aVp27ru-1oaKzhYg2hE3UjRc9WIY3J68E5zv8PBoM8RRj1Ft4O41wGcfvjj3VZvwpUuU-CqY20xvL81xPBnLjPRO5cMjiN4DHPSXFLZMiZVV9C3j9DLMMfS_kLxpqlVy5ZI7w6UiSGliPYuDaN62ZqeBr1srZBv7oe_4_6tqQAfDsC1G3H_P4_--flG9xcPkKHz</recordid><startdate>202210</startdate><enddate>202210</enddate><creator>Schwab, Marisa E.</creator><creator>Shao, Shirley</creator><creator>Zhang, Li</creator><creator>Lianoglou, Billie</creator><creator>Belter, Lisa</creator><creator>Jarecki, Jill</creator><creator>Schroth, Mary</creator><creator>Sumner, Charlotte J.</creator><creator>MacKenzie, Tippi</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-9217-1840</orcidid></search><sort><creationdate>202210</creationdate><title>Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy</title><author>Schwab, Marisa E. ; Shao, Shirley ; Zhang, Li ; Lianoglou, Billie ; Belter, Lisa ; Jarecki, Jill ; Schroth, Mary ; Sumner, Charlotte J. ; MacKenzie, Tippi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4348-7f78ccb9388a9e143ef6073881faec715fb7c6644bb47cf32afceec34573b2853</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adult</topic><topic>Antisense oligonucleotides</topic><topic>Atrophy</topic><topic>Attitude</topic><topic>Attitudes</topic><topic>Clinical trials</topic><topic>Diagnosis</topic><topic>Female</topic><topic>Fetal Therapies</topic><topic>Fetuses</topic><topic>Gene therapy</topic><topic>Genetic disorders</topic><topic>Humans</topic><topic>Medical diagnosis</topic><topic>Muscular Atrophy, Spinal - diagnosis</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Muscular Atrophy, Spinal - therapy</topic><topic>Neuromuscular diseases</topic><topic>Oligonucleotides, Antisense</topic><topic>Patients</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Spinal muscular atrophy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schwab, Marisa E.</creatorcontrib><creatorcontrib>Shao, Shirley</creatorcontrib><creatorcontrib>Zhang, Li</creatorcontrib><creatorcontrib>Lianoglou, Billie</creatorcontrib><creatorcontrib>Belter, Lisa</creatorcontrib><creatorcontrib>Jarecki, Jill</creatorcontrib><creatorcontrib>Schroth, Mary</creatorcontrib><creatorcontrib>Sumner, Charlotte J.</creatorcontrib><creatorcontrib>MacKenzie, Tippi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schwab, Marisa E.</au><au>Shao, Shirley</au><au>Zhang, Li</au><au>Lianoglou, Billie</au><au>Belter, Lisa</au><au>Jarecki, Jill</au><au>Schroth, Mary</au><au>Sumner, Charlotte J.</au><au>MacKenzie, Tippi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2022-10</date><risdate>2022</risdate><volume>42</volume><issue>11</issue><spage>1409</spage><epage>1419</epage><pages>1409-1419</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><abstract>Objective
In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.
Methods
A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.
Results
Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% would choose an established fetal ASO/small molecule therapy. Overall, 61% would enroll in fetal gene therapy trials and 87% would choose fetal gene therapies. Patients were less likely to enroll in a fetal gene therapy trial than parents enrolling a child (OR 0.31, p < 0.05). Older parental age and believing there had been excessive delay in diagnosis were associated with an interest in enrolling in a fetal ASO trial (OR 1.04, 7.38, respectively, p < 0.05).
Conclusion
In utero therapies are promising for severe genetic diseases. Patients with SMA and their parents view prenatal testing and therapies positively, with gene therapy being favored.
Key points
What's already know about this topic?
Optimal therapeutic outcome in many SMA patients is limited by motor neuron pathology that begins prenatally and is incompletely reversed by treatment delivered postnatally. In a preclinical model, in utero delivered therapeutics have successfully ameliorated the SMA phenotype. Involving the patient and caregiver community is crucial as we consider the pathway to a first in‐human clinical fetal therapy trial for rare diseases, such as SMA.
What does this study add?
This is the first stakeholder survey of parents and patients with SMA and offers insights into attitudes toward prenatal diagnosis, emerging fetal therapies, and clinical trials. Fetal therapies are viewed positively by the SMA community and prenatal gene therapy is the favored modality. More than half of the respondents would enroll in a phase I trial for fetal therapy (ASO or small molecule or gene therapy).</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>36029101</pmid><doi>10.1002/pd.6228</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0001-9217-1840</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | Prenatal diagnosis, 2022-10, Vol.42 (11), p.1409-1419 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Antisense oligonucleotides Atrophy Attitude Attitudes Clinical trials Diagnosis Female Fetal Therapies Fetuses Gene therapy Genetic disorders Humans Medical diagnosis Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - therapy Neuromuscular diseases Oligonucleotides, Antisense Patients Pregnancy Prenatal Diagnosis Spinal muscular atrophy |
| title | Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy |
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