Purpose

7.5% of the American population develop acute appendicitis making it the most common source of acute abdominal pain requiring surgery in the United States. By the end of the nineteenth century scientists and clinicians had already characterized the disease and recommended appendectomy as treatment [12]. More than a century later this major surgical intervention remains the standard treatment for acute appendicitis with more than 300000 appendectomies performed annually in the United States alone [3]. The causes of the disease remain however largely unknown [8]. Recently clinical trials have demonstrated than in the majority of the cases appendectomy is actually not required and that antibiotics are an appropriate initial treatment for uncomplicated acute appendicitis [910]. This is a change of paradigm for the treatment of the disease but it also improves our understanding of the causes of acute appendicitis as it proves that infectious agents are involved which had been previously hypothesized by researchers [11]. Furthermore there is evidence in the medical literature of familial cases of appendicitis reported since 1937 [12]. Life habits and environmental factors cannot fully explain this pattern of familial aggregation and statistical models have estimated than between 25 to 50% of the heritability of the disease is due to genetic transmission [13-15]. The infectious and genetic nature of acute appendicitis leads us to the hypothesis that genetic variations of the immune system are involved in its causes. Scientists have previously addressed appendicitis from a genetic prospective [[16]. These authors found a large region of the human genome involved in the heritability of the disease. However there are no published studies using modern high-throughput sequencing methods which would help us look at genetic content at a finer resolution and find specific candidate genes involved in the transmission of the disease. In this study we plan to use whole exome sequencing in patients of interest. Whole exome sequencing has proven to be a reliable tool to extract genomic variations in the coding regions of the human genome [1718]. We will use this technique to highlight any candidate genes or events in the subjects" genome that may be involved in predisposition to appendicitis. Finding the genetic factors involved in the etiology of acute appendicitis will help us improve our understanding of the disease but due to the infectious nature of appendicitis it will also improve our understanding of the whole human immune system.

Condition

Eligibility

Eligible Ages
Between 0 and 100
Eligible Genders
All
Accepts Healthy Volunteers
Yes

Inclusion Criteria

  • History of appendectomy due to appendicitis (as evidenced by a pathology report or self-reported if pathology is not available) prior to the age of 19 with at least one additional family member with a history of appendicitis. This includes half siblings. OR A family member of someone who meets the above criteria and has enrolled in the study

Exclusion Criteria

  • Immunosuppressive treatment
  • Malignancy currently being treated
  • Any medical or social condition that in the opinion of the Investigator would jeopardize the health or well being of the participant during any study procedures

Study Design

Phase
Study Type
Observational

More Details

Status
Recruiting
Sponsor
Rockefeller University

Study Contact

Recruitment Office
8007822737
rucares@rockefeller.edu

Notice

Study information shown on this site is derived from this institution's local clinical trials team. The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.