International Skeletal Dysplasia Registry Research

Informed Consent

Participation in research requires a formal process of informed consent. To archive materials submitted to the Registry and to utilize submitted materials for research purposes, a signed informed consent form from your patient is required. Patients must first agree to be contacted by a representative of the Registry. Please download and print a copy of the Contact Form

Once your patient has completed this form, it can be sent or faxed to the International Skeletal Dysplasia Registry at (310) 423-0462. When the form has been received, a genetic counselor or an investigator from the Registry will contact your patient and review the consenting process with the family. To assist in this process, please download and print a copy of the Informed Consent Form in English or the Informed Consent Form (in Espanol) for your patient to take home and review. For patients who are between the ages of seven and 13, an additional Assent Form (in English) or an Assent Form (in Espanol) is required. This form will be reviewed during the consenting process with appropriate patients. Informed consent is also required for the participation of additional family members in our research study. A separate informed consent form signed by a parent is required for the use of fetal tissues in research.

The following research forms can be downloaded as PDF files and printed. Once completed, these forms may be mailed or faxed to the registry.

English

  • Contact Form. After receiving this completed form, a genetic counselor or investigator from the Registry will contact your patient and review the consenting process.
  • Consent Form. Please download this form and provide it to your patient to take home and review.
  • Consent Form for Fetuses. Please download this form and provide it to the parents to take home and review.
  • Assent Form. For patients who are between the ages of seven and 13, this form is required and will be reviewed during the consenting process with appropriate patients.
  • Cedars-Sinai Medical Center IRB Approval Notice

Espanol

Submission of Materials

We encourage submission of the following materials for research after the ISDR researchers obtain informed consent for research participation from your patient.

  • X-rays
  • Blood for establishing cell lines and DNA isolation
  • Clinical photographs
  • Clinical summaries, including the pedigree
  • Cultured cells (including fibroblasts, chondrocytes and lymphoblastoid cells)
  • DNA
  • Fetal specimens
  • Fixed tissue specimens for histology and electron microscopy
  • Fresh tissue for cell culture
  • Frozen tissue specimens
  • Histology blocks and slides
  • Prenatal ultrasound images
Please contact us at (310) 423-9915 for further information regarding protocols, consents and submission of samples. Detailed information on sample submission is available in the following downloadable PDF files:

Kits for sample collection are available on request, but the materials are generally available in most hospitals.

Shipping Address

Please send all submitted materials using an overnight delivery service with a tracking system. PLEASE, NO WEEKEND OR HOLIDAY DELIVERIES.

International Skeletal Dysplasia Registry
Cedars-Sinai Medical Center
Attn: MaryAnn Priore or Arleen Hernandez
8635 West Third St., Suite 665W
Los Angeles, CA 90048

We will be glad to discuss opportunities for collaborative research and publication.

The following link is provided to assist physicians who have patients with a skeletal dysplasia.

International Nosology and Classification of Constitutional Disorders of Bone

International Skeletal Dysplasia Society