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Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot
Noémi Dahan-Oliel1,2, Tanya Bedard3, Vasiliki Betty Darsaklis1
1Shriners Hospitals for Children, Montreal, Quebec, Canada.
Insights
A pilot registry for Arthrogryposis multiplex congenita (AMC) will collect data from 40 families to improve understanding of its causes and inform future research and therapies. This framework supports large-scale studies for better prevention and genetic counseling.
Area of Science:
- Pediatric Genetics
- Congenital Disorders
- Clinical Research Infrastructure
Background:
- Arthrogryposis multiplex congenita (AMC) is a diverse group of conditions characterized by multiple congenital contractures.
- Current research is limited by small, single-center studies, hindering comprehensive analysis and collaborative efforts.
- Understanding the genetic and environmental factors contributing to AMC is crucial for developing effective prevention, gene therapy, and genetic counseling strategies.
Purpose of the Study:
- To establish a pilot registry for children with AMC to create a foundation for a large-scale registry.
- To gather comprehensive data on affected children and their families to inform distribution, clinical practice, and genetic research.
- To develop a standardized framework for high-quality AMC research.
Main Methods:
- A pilot registry will enroll 40 families with children aged 0-21 years diagnosed with AMC.
- Data collection will include child demographics, newborn variables, and parental demographic, lifestyle, and medical history.
- Standardized data collection will be ensured through a manual of operations, with analysis using descriptive statistics, regression, and qualitative methods.
Main Results:
- The pilot registry will provide a platform for a multisite registry, enabling diverse research avenues.
- Data collected will help refine participant selection criteria and expand datasets for future studies.
- The study will determine optimal timing for data collection and follow-up frequency for a full-scale registry.
Conclusions:
- The proposed AMC registry pilot is essential for advancing research into the causes and management of AMC.
- This initiative will facilitate multisite studies, leading to enhanced care and novel therapeutic strategies.
- Establishing a robust data collection framework is key to unlocking new insights into AMC phenotypes and contributing factors.
Introduction:
Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of conditions with multiple congenital contractures. These conditions may be attributed to genetic or other factors inducing decreased fetal movements, including maternal and paternal factors. Discovering the underlying genetic pathways has important repercussions for prevention, gene therapy and genetic counselling. The current literature mainly consists of small-scale, single-site studies, limiting comparability and pooling of findings across individual studies. A pilot registry for children presenting with AMC is proposed to provide the framework for a large-scale AMC registry. This registry will provide the platform to support high-quality studies to inform the distribution, clinical practice and genetics contributing to this group of conditions.
Methods And Analysis:
The registry will be piloted on 40 families of children from birth to 21 years of age presenting with AMC. Data will be collected on the child (demographic and newborn variables), mother and father (demographic, lifestyle habits and medical history). To promote standardised data collection, a manual of operations will be developed. Descriptive statistics will be used to summarise relevant data, regression analyses will be used to explore associations to generate hypotheses regarding factors contributing to AMC. Qualitative analysis will also be used to better describe the various phenotypes.
Ethics And Dissemination:
Ethics approval was obtained at the participating sites. The pilot registry will provide the platform for multisite AMC registry that will generate multiple research avenues to enhance current care and establish new therapies. Following this pilot study, the participant selection criteria will be refined and datasets will be expanded to include rehabilitation and surgical interventions, and genetic sequencing. The best timing for the questionnaire administration and frequency of follow-up prior to the implementation of a multisite AMC registry will be determined.
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