Ending the diagnostic odyssey for patients with rare complex immune dysregulation disorders.
Summary
This study has multiple goals, all with the aim to improve outcomes for children with complex immune dysregulation disorders. The immune system fights infection and protects the body from disease-causing changes. Rare genetic changes lead to the immune system inaccurately targeting the body itself, resulting in ‘complex immune dysregulation disorders’. Children with these conditions often experience a ‘diagnostic odyssey’ – a delay in diagnosis and treatment leading to poor health outcomes. We are a team of doctors who care for children with complex immune dysregulation at the Alberta Children’s Hospital. We propose to create a complex immune dysregulation research program with several goals. First, we will improve access to genetic testing to reduce the time to genetic diagnosis. Second, we will perform laboratory tests to examine how the immune system can malfunction in children with complex immune dysregulation. Lastly, we will partner with families to develop methods to accurately assess patient experiences and outcome measures within the cohort. Many new therapies are being developed which can be used in patients with complex immune dysregulation disorders once they are accurately diagnosed. We want to help these children end their diagnostic odyssey and improve access to life-preserving precision therapies.
Eligibility
Eligible ages: 0 to 99
Accepts healthy participants: Yes
Inclusion criteria:
Study participant criteria:
1. Must have known or suspected CIDD
2. Children 0-18, adults above 18
3. Participant or parent/guardian must give informed consent
4. Healthy controls: Relatives of the research participants.
To co-design with patient partners a measurement framework for outcomes in CIDD, a working group of five members will be selected and collaborated with.
Patient partner criteria:
1. Must be an individual with CIDD OR a parent/guardian of an individual with CIDD
2. Must be willing and able to attend meetings to discuss PROMs and PREMs
3. Be willing and able to provide feedback about designed measure outcomes.
Exclusion criteria:
Study participant exclusion criteria:
1. Individuals who have not provided consent
2. Healthy controls: Relatives of the research participant who have features of an autoimmune disease
Patient partner exclusion criteria:
1. Not an adolescent with CIDD or a parent/guardian of a child with suspected CIDD.
2. Individuals who have not provided consent t
Participate
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Additional information
Contact information
Dr. Ashish Marwaha contact: Phone (403) 955-3185 email ashish.marwaha@albertahealthservices.ca
Principal investigator:
Ashish Marwaha
Clinical trial:
No
REB-ID:
REB21-1803