Gene Study

Participants needed for Discovery of New Genes involved in Coffin- Lowry Syndrome

Posted 5/25/2008

Dr. Lawrence Layman is asking you to participate in this research study to identify new genes that might cause Coffin Lowry Syndrome (CLS). The purpose of this study is to identify people with CLS and analyze several candidate genes that are likely to be involved in CLS. This will provide information that will enable molecular diagnosis of CLS and possibly improve future treatment.

Benefits:

The result of this study will hopefully lead to the discovery of new genes involved in CLS, which should improve our understanding of the pathogenesis of CLS, as well as enabling the molecular diagnosis of CLS and potential treatment of CLS. The results gained from your participation may benefit other people with CLS or people having similar CLS symptoms.

How the study works:

If you agree that your child may be included in the study, you will be asked to complete the questionnaire and consent form and return it via E-mail or by regular mail. The form “Blood and patient info” will be sent to the physician(s) who saw or treated patients with CLS for completion of the Physician Questionnaire.

The physician will draw blood from patients with CLS and their parents to send to Dr. Layman, who will extract DNA and perform mutation screening and possibly other molecular analyses (including CGH arrays).

Risks:

The only risk associated with the study would be minor bruising that sometimes appears in the area where blood is drawn.

Study subjects:

Patients with CLS and people diagnosed with Coffin-Lowry-like syndrome are included as well as their parents for mutation screening of CLS candidate genes. All affected and unaffected family members are encouraged to participate in the study, as this helps determine the significance of any changes in DNA sequence.

Compensation:

There is no compensation for participating in the study.

Participation:

Your participation in this study is completely voluntary. If you decide not to be in the study, it will not in any way harm your relations with your doctors, the CLS Foundation, or myself.

Confidentiality:

The records of this study will be kept private. In any sort of report we might publish, we will not include any information that will make it possible to identify a patient.

Publication:

The results of this study will be published without identification of CLS patients. Sometimes for publication in medical journals, photos of the face or affected body areas of CLS patients will be included. You may be asked for permission to publish these photos, which will only be done if you consent (please see the separate consent form).

Financial Interest of Investigator:

Dr. Layman will receive no financial benefit for conducting this study.

Forms and Authorization:

(You will need Adobe Reader to view the pdf files. If you do not have Adobe Reader installed, you can install it free from here.)

Child Assent Form for children ages 7-12 (pdf)

Child Assent Form for children ages 13-17 (pdf).

Parental-guardian Research Informed Consent Form to accompany Child Assent Forms (pdf)

Consent for Subject Form for ages 17 and older, or for parents of children with CLS (pdf)

Patient Questionnaire and Instructions for Blood Sample - to be completed by your physician (doc)

Examples:

If you have one child, age 8, you will need the Child Assent Form for children ages 7-12, and the Parental-guardian Research Informed Consent Form.

If you have one child, age 14, you will need the Child Assent Form for children ages 13-17, and the Parental-guardian Research Informed Consent Form.

If you are an adult with CLS (or a carrier) and wish to participate, you will need the Consent for Subject Form.

Parents who have legal guardianship of an adult with CLS should fill out the Consent for Subject Form, and sign as the legal representative.

In all cases, print out a copy of the Patient Questionnaire and Instructions for Blood Sample and give it to your physician.

Any sections that do not apply to CLS may be left blank.

The information from the questionnaire will be collected and compiled with others in the study.

Questions:

The researcher doing this study is Dr. Lawrence C. Layman and Mr. Hyung-Goo Kim (M.Sc). If you have questions you may contact:

Dr. Lawrence C. Layman, M.D. Professor, Chief, Section of Reproductive Endocrinology, Infertility, & Genetics

Dept Obstetrics & Gynecology

Chief, Reproductive Medicine Program

Developmental Neurobiology Program

Institute of Molecular Medicine & Genetics

Neuroscience Program

Medical College of Georgia

Tel: 706-721-7591

E-mail: llayman@mcg.edu or hkim@mcg.edu

	Child Assent Form for children ages 7-12 (pdf)
	Child Assent Form for children ages 13-17 (pdf).
	Parental-guardian Research Informed Consent Form to accompany Child Assent Forms (pdf)
	Consent for Subject Form for ages 17 and older, or for parents of children with CLS (pdf)
	Patient Questionnaire and Instructions for Blood Sample - to be completed by your physician (doc)

	If you have one child, age 8, you will need the Child Assent Form for children ages 7-12, and the Parental-guardian Research Informed Consent Form.
	If you have one child, age 14, you will need the Child Assent Form for children ages 13-17, and the Parental-guardian Research Informed Consent Form.
	If you are an adult with CLS (or a carrier) and wish to participate, you will need the Consent for Subject Form.
	Parents who have legal guardianship of an adult with CLS should fill out the Consent for Subject Form, and sign as the legal representative.