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Neurology: Chiari-like Malformations Studies

Recruiting Cavalier King Charles Spaniels for two genetic studies on Chiari-like Malformations and Syringomyelia (CM/SM).

Chiari-like malformations (CM) are developmental abnormalities of the skull that result in compression of the cerebellum and brainstem. The result of this crowding of the brain within the skull is abnormal accumulation of cerebrospinal fluid in the spinal cord, syringomyelia (SM), which results in chronic pain.

This condition is extremely common in the Cavalier King Charles Spaniel breed and many dogs suffer from this pain syndrome. We aim to perform genetic analysis on affected and unaffected dogs with the intent to develop genetic tests that will aid breeders in breeding away from the problem. This research is being funded by the American Cavalier King Charles Spaniel Club Charitable Trust and supported by the AKC Canine Health Foundation. If you are interested in more information and/or think you have a dog that may qualify, continue reading.

Participation Requirements

These projects are for normal and affected Cavalier King Charles Spaniels, ideally older than 2.5 years. MRIs are offered at a discounted rate.

  • Information on individual participants is only shared within the research group and with the dog’s owner.
  • On entry into the study, each dog is assigned an ID number and is identified by this number on any data spreadsheet. This ensures that no one can look at a results spreadsheet and link the results to an individual dog’s name.

Sample Collection 

Owners will be asked to submit digital MR images and DNA sample from their dogs and to complete a health questionnaire. Ideally MRIs will have been performed at 2.5 years of age or older, but we will accept studies performed at a younger age.

  • Submit digital MRIs (brain/cervical spinal cord)
    • We will be able to schedule MRIs at a reduced cost at NC State, as well as a limited number at Cornell University.
    • MRIs can be labeled in a number of ways depending on client preference. Typically we would label with the study ID, but this could be problematic for owners/breeders who need these MRIs for screening purposes. Participants will be asked whether they would like the MRI to be labeled with the dog’s name, AKC registration number or study ID on entry into the study.
  • Submit a DNA sample (blood or saliva)
    • DNA storage – We need 6mls of blood taken into an EDTA tube (or tubes) and sent to us overnight on ice. Please label the tubes with the dogs call name. The tubes of blood need to packed with plenty of padding to avoid breakage and with an ice pack. The ideal is to put them in a styro foam box with ice packs or freezer packs. Please avoid shipping on a Friday as this would mean the sample would sit in the mail over the weekend. If the sample is drawn on a Friday or at the weekend, the blood will be fine if simply kept in a 4 degree refrigerator until it is shipped on Monday.
  • Submit a pedigree (if available) – clearly mark the date of birth and call name of your dog.
  • Complete 2 questionnaire forms and the owner consent

Sample Submission

Please complete the submission form and return along with the sample and required cardiologist report and pedigree to:

NCSU-College of Veterinary Medicine
Attn: Courtney Rousse 
Research Bldg. 332
1060 William Moore Dr
Raleigh, NC 27607

Please notify us on the day the sample is shipped if possible by phone at 919-513-7235, or by e-mail at ckcschiari@gmail.com.

Frequently Asked Questions

The main benefit of this study is the data generated for the breed as a whole. The information obtained may allow the development of genetic tests that will aid breeders in breeding away from the problem. By taking part in this study, your dog has gained access to MRI screening procedures at a reduced rate.

  • MRI: If you decide to have an MRI performed, there is a risk of general anesthesia. Dogs’ suitability for anesthesia will be assessed by the staff at the MRI center (physical examination and review of recent blood work) but general anesthesia always carries a small risk of complications, even death.

Owners will be asked to submit a DNA sample, pedigree (if available) health questionnaires and MRIs.

Participants in this study are assured of confidentiality.

  • Information on individual participants is only shared within the research group and with the dog’s owner.
  • On entry into the study, each dog is assigned an ID number and is identified by this number on any data spreadsheet. This ensures that no one can look at a results spreadsheet and link the results to an individual dog’s name.
  • MRIs can be labeled in a number of ways depending on client preference. Typically we would label with the study ID, but this could be problematic for owners/breeders who need these MRIs for screening purposes. Participants will be asked whether they would like the MRI to be labeled with the dog’s name, AKC registration number or study ID on entry into the study.

Resources

The following centers provide Chiari screening clinics

Chicago Veterinary Emergency & Specialty Center
3123 N. Clybourn
Chicago, IL 60618
Ph: 773-281-7110

Study Contacts

Please contact Courtney Rousse Sparks by calling 919-513-7235 or email at ckcschiari@gmail.com if interested in participating.

Principal Investigator
Natasha Olby, Vet MB, PhD, Dip ACVIM (Neurology) Professor of Neurology/Neurosurgery at North Carolina State University College of Veterinary Medicine.

Co-Investigator
Sofia Cerda-Gonzalez DVM, Dip ACVIM (Neurology) Assistant Professor of Neurology/Neurosurgery College of Veterinary Medicine, Cornell University.