PatientCrossroads CMD


           

Congenital Muscle Disease HYPOGLYCEMIA Survey (CMD Hypoglycemia)

Study Start:  December 2014
 
Purpose
To understand how frequently hypoglycemia occurs in congenital muscle disease, what types of congenital muscle diseases are more frequently affected, and what factors predispose or contribute to it.     
 
Study Details
Eligible participants will be required to fill out an NIH consent form, participate in a one-time telephone survey that takes 45 minutes, and sign an NIH medical record release authorization form so we have access to your medical records.  You also may be contacted for a few follow-up questions. Please note that interviews will be recorded.

To get started, please contact Leslie Hotchkiss at the NIH to obtain an NIH consent form and an NIH medical release.  Ms. Hotchkiss will ask to provide the names and contact information for your pediatrician, your pediatric neurologist, your endocrinologist, and the emergency departments and hospitals your child has been treated at. Ms. Hotchkiss will also ask you to obtain a copy of your child’s records and forward these to the NIH.

Once Ms. Hotchkiss receives a signed consent and medical release, she will work with you to schedule the telephone interview. Prior to the call, she will provide you with a copy of the questionnaire so you can review what will be asked. However, you will not need to send in the written form of the questionnaire. Some of the questions will ask you to remember key dates. Reviewing the questions in advance will allow us to obtain the most accurate answers.

Your participation will significantly contribute to our understanding of congenital muscle disease and help us tailor future guidelines to improve care. We appreciate your willingness to share your experience.
 

Eligibility
  • Affected individuals with a confirmed diagnosis of Congenital Muscular Dystrophy or Congenital Myopathy by genetic testing or muscle biopsy
  • Have experienced one or more episodes of hypoglycemia (blood sugar level below 60 mg/dL) prior to age 10.  Affected individuals can be older than age 10 currently, but the episodes had to have happened before they turned 10 years of age.
  • Be fluent in English

Contact 
Leslie Hotchkiss
National Institutes of Health (NIH)
Phone: (301) 402-0522
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it