Study for Children With Aggrecan Mutation Deficiency (ACAN)

Why are we doing this research?

Cincinnati Children’s is conducting a research study, sometimes known as a clinical trial or clinical study, to look at the effects of growth hormone treatment over one year on children with aggrecan mutation deficiency (ACAN) before they go through puberty. We will also want to learn more about how ACAN impacts joint health.

Who can participate?

Children 3 years old up to children on the onset of puberty, which may vary depending upon the child, may be eligible to participate.

Conditions

  • Delays - Growth and Development
  • Diabetes - Endocrinology - Metabolism

What will happen in the study?

This study includes 3 study visits (lasting 6 to 10 hrs.) over 12 months. You, as the parent or guardian, will be asked to complete at least four check-in calls during the 12 month period as well.

Your child will be treated with a single dose regimen of daily growth hormone for a period of 12 months to look at the effects on growth response. The dose that will be used is 50 micrograms/kg/day. This is a dose that is already approved for children diagnosed with Turner and Noonan syndrome, which both result in short stature not caused by growth hormone deficiency. Your child’s weight will be used to calculate the volume of their daily dose.

These are the things that will happen at the study visits.

We will:

  • Complete a routine physical exam, including to see if your child has started puberty
  • Complete a detailed joint exam, including to check for curvature of the spine
  • Complete a detailed musculoskeletal evaluation which looks at knee and back health and includes an assessment of how your child walks
  • Collect vital signs, height and weight measurements
  • Collect blood samples
  • Take photographs
  • Ask you questions about your child’s family and medical history that focus on growth and joint issues
  • Ask you questions about your child’s quality of life and physical activity
  • Take an x-ray of your child’s hand and knees
  • Take a bone density scan (DXA) of your child
  • Take MRI pictures of your child’s knees (to look for early signs of joint disease)

These are the things that will happen during the check-in calls.

We will:

  • Discuss any issues with medication administration and compliance
  • Record any adverse events not previously reported
  • Confirm that new supplies/medication will be shipped to the participant (upon completion of the check-in call)
  • Ask you about the blood sample which will need to be drawn at a local facility (i.e. lab, doctor’s office) to monitor IGF-I levels at the time of the 3 month check in call. This will be subject to your insurance company and the study is not able to reimburse the cost.

Parents or guardians interested in having their child participate will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.

What are the good things that can happen from this research?

We hope that the treatment of daily growth hormone will help your child grow. After each visit, we will provide you with a copy of your child’s growth chart and a letter will also be sent to the patient’s referring physician including these exam findings and any laboratory or imaging results.

When we finish the study, we also hope to learn more about joint disease and the effects of growth hormone in individuals with ACAN. This may help other children diagnosed with ACAN in the future.

What are the bad things that can happen from this research?

Possible risks and discomforts will be discussed with parents or guardians interested in learning more about the study.

Will you/your child be paid to be in this research study?

You/your child will not be paid for this research study. However, the study will pay for your travel expenses incurred when coming to Cincinnati Children’s for study visits. We will cover the cost of an economy class plane ticket for your child, one parent and for every affected family member with ACAN participating in this study.

We will reimburse your family at the standard mileage reimbursement rate, if you choose to drive instead. The study will also cover the cost of the hotel rooms for up to 2 nights per study visit. Each individual will be reimbursed for the cost of their meals up to $35 per individual per day.

Contact

Contact Us.Leah Tyzinski
513-636-7514
Leah.Tyzinski@cchmc.org
Division of Endocrinology
Cincinnati Children’s Hospital Medical Center
3333 Burnet Ave.
Cincinnati, OH 45229-303

Study Doctor

Contact Us.Philippe Backeljauw, MD
Division of Endocrinology
Cincinnati Children’s Hospital Medical Center