Research Participation

Research Participation

For Patients and Families: Research Participation Q & A

Research Participation

  1. Who is eligible?
  2. How do I enroll?
  3. What paperwork/forms do I need to complete?
  4. What will I be asked to do?
  5. What is done with the blood samples?
  6. How do I arrange blood draws or x-rays for myself, my child, or other family members?
  7. Who in my family will be recruited?
  8. Are there costs for participation?
  9. Do I need to travel to participate?

Who is eligible?

Any individual who has been diagnosed with a skeletal dysplasia may be enrolled in the Registry. Parents and siblings of an affected individual are strongly encouraged to participate. If there is a family history of the condition, affected and unaffected members of the extended family are also welcome to enroll.

How do I enroll?

Individuals with a skeletal dysplasia or parents of children with a skeletal dysplasia who wish to enroll in the Registry may contact us directly at 310-825-8998. We can assist your physician or genetic counselor with the submission of your case.  All participants must provide the name of a physician who we can contact for records and materials and to whom we can send a report.

What paperwork/forms do I need to complete?

All study participants will be asked to review and complete the following forms as appropriate:

A separate consent form must be completed for EACH study participant (For example, 3 consent forms should be submitted for participation of a child and both parents.)

In order to complete the informed consent process, you will need to speak to the Research Coordinator to review the consent forms and study protocol. The Research Coordinator will contact the participant directly once the contact information has been received and will be available to answer any questions. You may also contact a Registry staff member at any time to discuss participation.

What will I be asked to do?

All study participants will be asked to:

  • Read & evaluate the appropriate consent forms
  • Speak to the Research Coordinator to review the participation protocol and complete the consenting process
  • Request that your doctor or genetic counselor contact us directly and submit the appropriate materials (i.e. x-rays and medical records) to the Registry.  Please go to Submission Instructions to see all of the materials required depending on the type of case being submitted.
  • Provide a blood sample (Up to 12 teaspoons will be drawn for adults. For children, a smaller amount of blood is drawn depending on their age and size.)

Participation may also include:

  • A skin biopsy
  • Other tissue biopsies

The purpose of these procedures is to establish a diagnosis by examining bone, cartilage and other tissues under the microscope or by studying cells grown in the laboratory. Obtaining bone or cartilage will ONLY be done when you or your child is already undergoing surgery and where the tissue is a byproduct of the surgery and would otherwise be discarded.

What is done with the blood samples?

  • DNA in the blood is used to
    • Help determine which gene(s) may be involved in your condition and
    • Address other scientific questions as they arise
  • A permanent cell line may be established for possible use in future research
  • The materials and information provided are used to help understand the underlying biological pathway involved in your skeletal dysplasia, which may ultimately lead to treatments.

How do I arrange blood draws or x-rays for myself, my child, or other family members?

  • Typically, the physician or genetic counselor involved in submitting your case to our Registry will arrange blood draws and imaging studies for the patient and parents at their facility.
  • If your health care provider is unable to assist in arranging imaging studies and blood collection, our Coordinators and Registry Support Staff can assist in arranging these procedures for you and your family members.

Our Coordinators and Support Staff will

  • Answer all questions you have regarding the study
  • Help you with all study paperwork
  • Assist in arranging your blood draw, if needed
  • With your permission, contact & recruit various members of your family

Who in my family will be recruited?

Generally, the study hopes to recruit the following family members:

  • The biological parents of the affected individual(s)
  • Any affected and unaffected siblings
  • In families with more than one affected individual, it would be helpful to include the family members that genetically link the affected individuals if they are willing to participate.

The Research Coordinator or other Registry staff will best be able to tell you which family members would qualify to participate.

Are there costs for participation?

  • There is no cost for participating in our research. There is also no compensation for participation.
  • Please note that all exams, tests and procedures that your physician orders as part of standard medical care for your condition will be billed to you or your insurance company
  • Costs for blood samples and X-rays that are specifically requested by the Registry for a research study will be paid for by the Registry

Do I need to travel to participate?

  • You DO NOT need to come to California to participate in our Registry
  • The Registry has & continues to work with families throughout North America and all over the world
  • All study contact is by phone, email, US Postal Service, and FedEx