Addison's Disease - Autoantibody Study

Flying Portuguese Water DogAddison’s disease (also referred to as primary hypoadrenocorticism) is an immune-mediated disease in dogs and humans in which the body attacks the outer layer of the adrenal glands, which are small organs near the kidneys. This leads to a deficiency in key hormones (cortisol and aldosterone) which regulate responses to stress and water/electrolyte balance. Dogs often present with waxing and waning gastrointestinal signs, a finicky appetite, or generalized lethargy. In some cases, dogs present to veterinarians in a shock state, which can be life-threatening if the consequences of Addison’s disease are not recognized promptly and treated. Therapy for Addison’s disease is available, but requires lifelong commitment by owners with hormone replacement therapy (typically a monthly injection and daily pills).

Dr. Steven Friedenberg and Amy Treeful are overseeing this study in collaboration with the Canine Genetics Laboratory and the Center for Mass Spectrometry and Proteomics at the University of Minnesota. The goal of this study is to identify the antibodies present in dogs newly diagnosed with Addison’s disease.  By identifying disease-defining antibodies, we hope to pave the way for the development of a clinical test that could diagnose Addison’s Disease before the onset of clinical signs. Breeders would also benefit from such a test to make more informed breeding decisions.  Additionally, this work will contribute to the understanding of the basic immunopathology of Addison’s Disease.


 

Requirements to Participate

Breeds
We are currently recruiting both affected and unaffected Portuguese Water Dogs, English Cocker Spaniels, and Standard Poodles.

Affected Dogs

  • Two age groups are sought for this study:
    • 1 to 3 years of age, diagnosed in the past 30 days
    • 8 years old and above, diagnosed at least 5 years ago
  • Documentation of the diagnosis with an ACTH stimulation test and an abnormal serum sodium:potassium ratio
  • Your willingness to volunteer a blood sample from your dog for research

Unaffected Dogs

  • Two age groups are sought for this study:
    • 1 to 3 years of age
    • 8 years old and above
  • No history of Addison’s disease, or any other autoimmune disease
  • Your willingness to volunteer a blood sample from your dog for research

Study Information For Owners

Please contact Amy (or have your veterinarian contact her) at tree0002@umn.edu if you are interested in having your dog donate a blood sample.  Amy will discuss with you whether your dog is a candidate for the study, and obtain the necessary medical records from either you or your dog’s veterinarian.

If your dog meets the criteria for the study, we will send your veterinarian a prepaid shipping label, sample collection kit, and return shipping packaging.  You can then schedule a brief appointment with your veterinarian for a blood draw.  After the visit, your veterinarian will send the blood sample to us, along with a consent form and any relevant medical records.

Please also bring a copy of your dog’s pedigree to your veterinarian if you have a copy, however this is not strictly necessary.  You can also e-mail it to Amy directly.

 

Study Information For Veterinarians

If you have any clients who you think would be interested in participating in our study, or if your client has approached you about this study, the following information should be helpful.

In our study, we aim to identify the disease-defining autoantibodies in newly diagnosed Addison’s Disease cases in English Cocker Spaniels, Portuguese Water Dogs, and Standard Poodles.  Participation in this study will require a one-time blood draw, from which we will process DNA, RNA, and serum.    Upon notification of interest in enrolling in this study, a collection kit will be sent to you.  This kit includes instructions and materials for sample collection, prepaid return shipping label and packaging, as well as a consent/enrollment form. 

Affected Dog Inclusion Criteria

  • Flat ACTH stimulation test
  • Pre-treatment electrolytes documenting an abnormal serum Na:K ratio
  • Typical Addison’s Disease

Dogs can be receiving treatment for Addison’s Disease (or other conditions) at the time of study enrollment

  • Age Restrictions (Two age groups sought):
    • 1 to 3 years of age, diagnosed in the last 30 days
    • 8 years old and above, diagnosed 5 years ago or more

Unaffected Dog Inclusion Criteria

  • No history of Addison’s disease, or any other autoimmune disease
  • Age Restrictions (Two groups sought):
    • 1 to 3 years of age
    • 8 years old and above

For all dogs, we require 8-12 mL of blood collected into 3 different tubes: (1) A Tempus blood RNA tube (1-3 mL), (2) a serum separator tube (6-8 mL), and (3) an EDTA tube (1mL).  A fourth tube, a cryovial, is provided to transfer the separated serum into. In addition to the blood draw, all participants are required to sign a consent form, and pedigrees are requested if available.

For affected dogs, we also require medical records confirming the diagnosis of Addison’s Disease (ACTH stimulation test and pre-treatment electrolytes).

For unaffected dogs, we will run a baseline cortisol on the dog at the University of Minnesota to rule out Addison’s Disease, using 0.5mL of the provided serum sample. 

If you have any clients meeting the above criteria who might be interested in enrolling in this study and donating a blood sample, please e-mail Amy at tree0002@umn.edu with your contact details and we will arrange a time to discuss study eligibility.  If your patient qualifies, we will send you a sample collection kit at our expense.  We will provide you with further shipping details once we ensure that your patient is a good candidate for the study.

Funding

Funding for this research is graciously provided by the the Portuguese Water Dog Foundation,the English Cocker Spaniel Club of America Health & Rescue Organization, the Poodle Club of America Foundation,and the AKC Canine Health Foundation, Inc  as well as internal grants from the University of Minnesota.


 

About the investigator

Steve Friedenberg with Poodle

Dr. Friedenberg is a board-certified veterinary critical care specialist and a geneticist, and is currently an Assistant Professor at the University of Minnesota College of Veterinary Medicine. He became interested in genetic diseases while working for Dr. Rory Todhunter at Cornell University as a vet student, and developed a particular interest in autoimmune diseases during his residency training at The Ohio State University. He holds a PhD in genetics from North Carolina State University, and is very interested in computational biology and its applications to finding better ways to diagnose, prevent, and treat genetic disorders.

Contact Us


Canine Genetics Lab
University of Minnesota
1988 Fitch Ave
AS/VM 295
St. Paul, MN 55108

z.umn.edu/caninegenetics

Please contact Amy Treeful (or have your veterinarian contact her) at tree0002@umn.edu  if you are interested in having your dog donate a blood sample.