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Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for
Noémi Dahan-Oliel1,2, Harold van Bosse3, Vasiliki Betty Darsaklis4
1Research, Shriners Hospital for Children, Montreal, Quebec, Canada ndahan@shrinenet.org.
Insights
A new multicentre registry will collect data on arthrogryposis multiplex congenita (AMC) to understand the condition better. This research aims to improve health outcomes and identify new treatments for children with AMC.
Area of Science:
- Medical Genetics
- Rare Diseases
- Orthopedics
Background:
- Arthrogryposis multiplex congenita (AMC) encompasses hundreds of conditions characterized by multiple congenital contractures, affecting approximately 1 in 3000 live births.
- The condition arises from a lack of fetal movement in utero, necessitating comprehensive research into its long-term impacts.
- Understanding the prevalence, etiology, and functional outcomes in a large cohort is crucial for individuals with this rare disorder.
Purpose of the Study:
- To establish a multicentre registry for arthrogryposis multiplex congenita (AMC) to gather essential epidemiological and genetic data.
- To improve health outcomes for children with AMC through genetic and outcomes research.
- To identify novel therapeutic targets and diagnostic tools for AMC.
Main Methods:
- Recruitment of 400 participants from seven North American orthopaedic hospitals.
- Phase 1: Collection of retrospective and cross-sectional data on epidemiology, etiology, and interventions via patient-reported outcomes and clinical measures.
- Phase 2: Whole genome sequencing and genotype-phenotype correlation by a dedicated study team, including geneticists and bioinformaticians.
Main Results:
- The registry will facilitate descriptive analyses of the 400-participant sample.
- Logistic regression models will be employed to evaluate relationships between various outcomes.
- Data analysis will focus on identifying genetic variants and correlating them with clinical information, pedigree, and photographs.
Conclusions:
- The AMC registry is a critical initiative for advancing research into this rare condition.
- Findings will be disseminated to the scientific community and all stakeholders, including families and patient support groups.
- The registry will serve as a platform for hypothesis-driven research, ultimately aiming to improve the lives of individuals with AMC.
Introduction:
Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC.
Methods And Analysis:
Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted.
Ethics And Dissemination:
Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.
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