CFTR Gene Dysfunction, Cystic Fibrosis
Conditions
Brief summary
The main causes of acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) in children are defects in genes that have been associated to pancreatitis. Among these gene defects CFTR gene mutations are commonly found, 34% ARP and 23% CP . Since not every CFTR gene mutations clinically manifest, just identifying these CFTR gene mutations may not help to establish a clear role of this defect in the etiology of the individual ARP/CP. The novel beta-adrenergic sweat secretion test is a very sensitive test to detect small abnormalities in CFTR function in form of a linear gene-function relation. By identifying even mild CFTR defects, in future will help in finding the role of CFTR modulators and providing treatment to these patients.
Interventions
COMBINATION_PRODUCTBeta Adrenergic Sweat Test
In Beta Sweat Test - sweat secretion will be stimulated by injecting a series of drugs within the skin surface. Small needles will be used to inject minute amounts of each drug. Before and after each skin injection, the skin will be cleaned using an alcohol swab. 1. Two sensor probes will be strapped to the forearm with rubber bands in position just above the injection site. 2. Under the first probe, injection atropine will be given in one small area of the skin. 3. Under the second probe, first injection carbachol will be given in one small area of the skin. 4. Next, at the second probe area, the normal sweating will be stopped for awhile by injecting a drug called atropine. 5. Lastly, beta-adrenergic sweating will be stimulated by injecting a combination of the following drugs: atropine, isoproterenol, and aminophylline (β-cocktail). Using probes, all sweat rate readings will be recorded.
Sponsors
The National Pancreas Foundation
The Hospital for Sick Children
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Intervention model description
Evaporimeter TEWL probes, model RG-1
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age : 4 years and older * Diagnosis: Acute recurrent pancreatitis or chronic pancreatitis * History: at least one of the following: 1. Carry one or two CFTR mutations 2. Borderline sweat chloride levels 3. Has Family History of CF 4. Has had positive CF Newborn screening
Exclusion criteria
* Pregnant females: will be excluded at screening.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Assessment of CFTR function using the Beta Adrenergic Sweat Secretion Test | 60 mins | CFTR function assessment of patients with acute recurrent or chronic pancreatitis by using Beta adrenergic sweat test. |
Outcome results
None listed