Are you a parent or guardian of a child (living or deceased) diagnosed with Neonatal Marfan Syndrome (also called Early-onset or Infantile Marfan Syndrome)? Your experiences are invaluable!

 

Researchers at Stanford Children’s Hospital are conducting the first comprehensive study on neonatal Marfan syndrome to better understand the condition, treatment outcomes, developmental milestones, and the overall journey of affected families. The study is supported by The Marfan Foundation. 

 

In our commitment to advance knowledge as broadly as possible, we are also collaborating with all neonatal Marfan research initiatives worldwide. While our survey is the primary focus, at the end of the survey you will be provided the option to individually enroll in three additional neonatal Marfan research projects that could further accelerate discoveries, treatment, and diagnosis for this community.

 

Together we can find answers!

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With the first comprehensive survey, we are inviting parents and guardians to participate in this important research by:

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• Completing a comprehensive online survey: This survey will gather detailed information about your child’s medical history, treatments, developmental progress, and your experiences as a caregiver. Should the research team have a question, and if you are willing, a member of the research team will reach out to clarify any questions. 

• Authorizing the release of your child’s relevant medical records and imaging: This will enable our research team to gather crucial clinical data for analysis.

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Why should you participate?

 

• Contribute to the first comprehensive understanding of neonatal Marfan syndrome: Your participation will help build a vital knowledge base that can inform future research, clinical practices, and support resources.

• Help other families facing a neonatal Marfan syndrome diagnosis: By sharing your experiences, you can provide invaluable insights and hope to others navigating this challenging condition.

• Partner with researchers dedicated to making a difference: Our team at Stanford Children’s Hospital is committed to understanding neonatal Marfan syndrome and improving the lives of affected individuals and their families.

• Your time commitment is limited: The online survey can be completed at your own pace, and depending on the number of treatments and interventions, can take between 1-4 hours (with the average taking 1 hour and 45 minutes). Researchers will do the medical record retrieval.

• Your privacy will be protected: All information shared will be kept confidential and used solely for research purposes.

• Receive a token of appreciation: As a token of our appreciation, all participants will receive a $25 gift certificate after completing the survey.

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Who can participate?

 

• Parents or legal guardians of a child (of any age, living or deceased) who received a diagnosis of neonatal/early-onset/infantile Marfan syndrome.

 

How can you participate?

 

If you are interested in participating in this study, or learning more, please email the study team at emily19@stanford.edu, or enter your email in the box at the bottom of this page. A member of our research team will follow up with instructions to complete the consent form and provide your unique link to the online survey. You may also request printed materials or discuss any questions before enrolling.

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Your participation can make a significant impact on the future of neonatal Marfan syndrome research and the lives of affected families. Thank you for considering this important opportunity.

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Discover Opportunities to Contribute to Additional Research:

 

At the end of our survey, you'll have the chance to learn about three additional, groundbreaking studies and enroll in them directly. Participation is optional and entirely voluntary. It's important to know that these are completely separate studies, and each requires its own distinct enrollment process. Your participation in our survey won't enroll you in either of these, but we're proud to be collaborating with them to advance neonatal Marfan research.

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1. Optional GEMS Study (101 Genomes Foundation)

 

Uncover the genetic mysteries behind Marfan syndrome variability! The GEMS (Genome-wide Epistasis for cardiovascular severity in Marfan Syndrome) Study, led by Dr. Paul Coucke and Dr. Bart Loeys at Ghent University and the University of Antwerp, uses whole-genome sequencing and AI to highlight gene interactions. 

 

This research aims to identify "modifier genes" that might explain why some children have severe neonatal Marfan syndrome while others experience milder forms, potentially leading to new therapeutic avenues for all individuals with Marfan syndrome.

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Learn about the motivation of the study here.

Easily enroll in the study here.

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2. Optional CLARITY Database (Texas Children’s Hospital)

 

Researchers at Texas Children’s Hospital, led by Dr. Shaine Morris, are interested in learning more about young people with aortic disease that has a genetic basis. They are asking for your help because there are currently no medical guidelines on how to best manage aortic dilation in children, and little is known about the long-term outcomes of these genetic conditions. In an effort to learn more, researchers will collect clinical information from your medical records to better understand how the aorta changes over time, and how your genotype (your unique genetic code) affects your disease. This information will help create guidelines that will provide better tools for doctors to diagnose, estimate risks, and treat children and young adults with genetic aortic disease. These guidelines aim to improve the care and quality of life for individuals diagnosed with these conditions.

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Learn more and get involved here. If you have any questions, please contact the study research coordinator, Nadia Espahbodi, at nxespahb@texaschildrens.org.

 

3. Optional Facial Recognition Research (Montalcino Aortic Consortium - MAC)

 

Help improve early diagnosis of neonatal Marfan Syndrome through innovative AI! By contributing facial images, you can help train and refine AI models that may lead to enhanced diagnostic tools and clinical decision-making for future families. This project is led by MAC investigators Dr. David Murdock and Dr. Dianna Milewicz at The University of Texas Health Science Center at Houston McGovern Medical School.

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To enroll in this study, email: mac@uth.tmc.edu.  To learn more about MAC click here. 

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Frequently Asked Questions (FAQs) - The First Comprehensive Study on Neonatal Marfan Syndrome

 

What is Neonatal Marfan Syndrome?

 

Neonatal Marfan syndrome (also called early-onset or infantile Marfan syndrome) is a term used to designate a severe presentation of Marfan syndrome that is evident in early infancy and shows rapid progression during childhood. 

 

In general terms, most doctors use neonatal Marfan syndrome to describe children who have striking outward characteristics at the time of birth, and significant cardiovascular (heart) involvement in very early infancy. Particularly pronounced features often include long extremities and fingers, joint laxity and contractures, a characteristic facial appearance with deeply set and downward slanting eyes and/or crumpled ears, loose and redundant skin, poor feeding, breathing difficulties, enlarged cornea or glaucoma, and severe prolapse and leakage through the mitral and/or tricuspid heart valves that can lead to poor squeeze of the heart muscle (heart failure).

 

Other findings typical of milder forms of Marfan syndrome can also be present including pectus deformity (indented or protruding chest), scoliosis (curved back), nearsightedness, aortic root dilatation (enlargement), and eye lens dislocation.

 

Neonatal Marfan syndrome is the worst end of the spectrum and, even within the neonatal Marfan patients, there is a range in severity, depending on the combination of features and the severity of the individual components.(1)

 

What is the purpose of this study?

 

This study aims to be the first comprehensive investigation into neonatal Marfan syndrome. Our goals are to understand the various ways neonatal Marfan syndrome manifests, the effectiveness of different treatments, the developmental pathways of affected children, the genetic factors involved, and the overall experiences of families navigating this condition. We also aim to create valuable resources for families and healthcare providers.

 

How long will the study run?

 

The survey is expected to launch in 2025 and will remain open for approximately 12 months. Following the survey, medical record retrieval and analysis will occur over the following two years, with results shared publicly when available.

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Who is conducting this study?

 

• This study is being conducted by researchers at Stanford Children’s Hospital, led by Dr. Claudia Algaze, Director of the Cardiovascular Connective Tissue Disorders Program, and coordinated by Emily Hardman, lead program coordinator and research assistant.

 

• This study is supported by the Marfan Foundation and is aligned with other neonatal Marfan research efforts, including the CLARITY study and the Montalcino Aortic Consortium (MAC). However, participation in this study does not enroll you in those other studies, and no data will be shared unless you choose to enroll in those studies directly. Any participation in those studies will follow their own separate consent processes and study practices.

 

Who can participate in this study?

 

• We are seeking participation from parents or legal guardians of children (of any age, living or deceased) who have received a diagnosis of neonatal/early-onset/infantile Marfan syndrome.

 

What will I be asked to do if I participate?

 

Participation involves:

• Completing a comprehensive online survey: This survey will gather detailed information about your child’s medical history, treatments, developmental progress, and your experiences as a caregiver. Should the research team have a question, and if you are willing, a member of the research team will reach out to help clarify any questions. 

• Authorizing the release of your child’s relevant medical records and imaging: This will enable our research team to gather crucial clinical data for analysis.  Researchers will work with your individual hospitals on their medical release authorization process, and may reach out for additional signatures, if necessary.  But Stanford researchers will  gather information, and will provide you any additional forms that may need to be signed to retrieve the records. 

 

What is the GEMS Study of the 101 Genomes Foundation and how does it apply to neonatal Marfan syndrome?

 

• At the end of the survey, you will be asked if you wish to participate (via https://www.101gems.be/) in the GEMS Study led by 101 Genomes Foundation (F101G) investigators Paul Coucke, PhD, and Bart Loeys, MD, PhD, at the Ghent University and the University of Antwerp. 

 

• BACKGROUND ON THIS STUDY: This study aims to unravel genetic and molecular mechanisms underlying the variability of the cardiovascular involvement in Marfan syndrome, notably by capitalizing on genomics and artificial intelligence (AI) tools to highlight gene interactions and identify modifier genes that may counteract or exacerbate the deleterious effect of pathogenic variants on FBN1, and contribute to explain the extreme variability of manifestations ranging from severe neonatal Marfan forms to milder forms of classic Marfan to explore new therapeutic avenues for all. If you choose to participate, your child will receive a saliva collection kit at home. Once the saliva specimen is collected, you can return it to 101 Genomes free of charge. Your child’s DNA will be extracted at Ghent University for digitization (sequencing) and stored in the genomic infrastructure of 101 Genomes to study gene-gene interactions and identify modifier genes interacting with FBN1. 

 

• MOTIVATION FOR 101 GENOMES PROJECT: When Romain and Ludivine learned that their baby boy had a neonatal form of Marfan syndrome, they turned heartbreak into action. Their discovery in genetic databases of clues suggesting the existence of potential modifier genes for FBN1 led them to create the 101 Genomes Foundation, with a mission to harness genomics and AI to understand why children like their son are so severely affected. The GEMS Study is the Pilot project at the heart of the action of 101 Genomes and its aim has always been to understand the variability of the manifestations in Marfan syndrome and why children, like their son, with neonatal Marfan are so severely affected.

 

Do I have to participate in the GEMS Study of the 101 Genomes? 

 

• No. Participation in the GEMS study is fully optional and involves the parent enrolling directly in that study. You will be asked at the end of the survey if you wish to participate. Choosing not to participate will not affect your survey results, and you will still receive the $25 gift certificate.

 

What is CLARITY?

 

• CLARITY stands for the Collaborative for Longitudinal Aortic Research In The Young.  

 

Researchers at Texas Children’s Hospital, led by Dr. Shaine Morris, are interested in learning more about young people with aortic disease that has a genetic basis. There are currently no medical guidelines on how to best manage aortic dilation in children, and little is known about the long-term outcomes of these genetic conditions. In an effort to learn more, researchers are collecting clinical information to better understand how the aorta changes over time, and how your genotype (your unique genetic code) affects your disease. This information will help create guidelines that will provide better tools for doctors to diagnose, estimate risks, and treat children and young adults with genetic aortic disease. These guidelines aim to improve the care and quality of life for individuals diagnosed with these conditions.  One is eligible to participate in the CLARITY study if they were diagnosed with early-onset/ neonatal/ infantile Marfan syndrome with a FBN1 mutation.  Participation in this study does not enroll you in those other studies. You can learn more about CLARITY here. Participation in any of these studies will follow their own separate consent processes and study practices.

 

What is the AI Facial Recognition research project at the University of Texas?

 

• At the end of the survey, you will be given information about this project, and asked if you wish to enroll directly in a research study led by Montalcino Aortic Consortium (MAC) investigators David Murdock, MD, and Dianna Milewicz, MD, PhD, at The University of Texas Health Science Center at Houston McGovern Medical School.  Should you be interested, a link to join the study will be provided to you by the MAC research team to individually enroll. This study aims to develop artificial intelligence (AI) tools that analyze facial features to support early diagnosis and risk assessment for neonatal Marfan syndrome. If you choose to participate, your child’s facial image will be used to train and refine AI models that can recognize characteristic facial patterns, with the goal of improving diagnostic accuracy and guiding clinical care. Participation is entirely voluntary, and all data will be stored securely and used solely for research purposes. Choosing not to participate will not affect your survey results, and you will still receive the $25 gift certificate.

 

Do I have to participate in the AI Facial recognition study? 

 

• No. This is a separate study that you would individually enroll in. Participation in the AI Facial Recognition study is optional. You will be asked at the end of the survey if you wish to enroll directly in the study. Choosing not to participate will not affect your survey results, and you will still receive the $25 gift certificate. 

 

How much time will participation take?

 

• The online survey can be completed at your own pace. You can stop at restart at any time with a unique code that will be sent to you. Pilot testers on the survey averaged 1 hour and 45 minutes to complete the study, with a range of 1-4 hours, depending on your child’s medical complexity.

• We'll handle the legwork by coordinating directly with every hospital to navigate their individual authorization requirements. Once all the necessary paperwork is ready, we'll provide it to you for your signature. Our goal is to make this process as easy as possible. We'll only contact you for clarification on the survey or medical records if needed, and you've given us permission to do so.

 

Will I be compensated for my participation?

 

• Yes!  As a token of appreciation, all participants will receive a $25 gift certificate after completing the survey. 

 

Will my information be kept confidential?

 

• Yes, all information you provide will be kept strictly confidential. Your responses will be combined with those of other participants for analysis, and no individual responses will be identified in any reports or publications. All data will be stored securely according to research ethics guidelines.

 

Will the study results be shared with me?

 

• Yes, we aim to publish our findings in peer-reviewed medical journals and present them at relevant conferences. We will share the overall findings of the study with participants through the Marfan Foundation and the Neonatal Marfan Website. 

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How will this study help families affected by neonatal/early-onset/infantile Marfan Syndrome?

 

• This study is crucial for building a foundational understanding of neonatal Marfan syndrome. The information gathered will help:

  • Identify effective treatment strategies and improve clinical care guidelines.

  • Understand the range of developmental outcomes and inform early intervention efforts.

  • Shed light on the genetic factors that may influence the condition.

  • Create a comprehensive resource for families and healthcare providers, fostering a more informed and supportive community.

  • Lay the groundwork for future research into neonatal/early-onset/infantile Marfan Syndrome.

 

Who can I contact if I have more questions?

 

• If you have any further questions about the study or would like to participate, please do not hesitate to contact us at emily19@stanford.edu.

 

For complaints, concerns, or Participant's rights, contact 1-866-680-2906.

 

Thank you for contributing to this vital research.

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