Protocol Details

The Natural History of Reproductive and Overall Health in Women with a Pre-Mutation in the FMR1 Gene: Creation of a Patient Registry

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	10-CH-0144
Sponsoring Institute	National Institute of Child Health and Human Development (NICHD)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Female Min Age: 18 Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	Male
Special Instructions	Currently Not Provided
Keywords	Patient Registry; FMR1 Gene; Fragile X Syndrome; Primary Ovarian Insufficiency; Premature Ovarian Failure
Recruitment Keyword(s)	Fragile X Syndrome; Premature Ovarian Insufficiency; Premature Ovarian Failure
Condition(s)	Fragile X Syndrome; FMR1 Premutation; Primary Ovairan Insufficiency; Premature Ovarian Failure; Premature Menopause
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Child Health and Human Development

Background:

- In human DNA, the Fragile X (FMR1) gene helps to regulate the nervous and reproductive systems. If the gene is abnormal, it can cause different kinds of problems, such as abnormal menstrual periods, decreased fertility, muscle tremors, and mental retardation. An abnormal FMR1 gene can also make a person more susceptible to other medical conditions, such as thyroid problems, high blood pressure, seizures, and depression. More research is needed on how abnormalities in the FMR1 gene can lead to these problems, and how often these problems appear in individuals with an abnormal FMR1 gene.

- Researchers are interested in developing a patient registry of women who have an abnormality in the FMR1 gene. This registry will allow researchers to follow participants over time and study possible effects of this abnormality on their general and reproductive health.

Objectives:

- To develop a patient registry of women with an abnormal FMR1 gene and monitor their general and reproductive health.

Eligibility:

- Women at least 18 years of age who have an abnormal FMR1 gene on the X chromosome.

Design:

- The following groups of women will be eligible for screening for this study:

- Those who have a family member with Fragile X Syndrome or mental retardation

- Those who have (or have a family member who has) primary ovarian insufficiency, also known as premature menopause

- Those who have (or have a family member who has) certain neurological problems such as tremors or Parkinson's disease.

- Eligible participants will be scheduled for an initial study visit at the National Institutes of Health Clinical Center. Participants who have regular menstrual periods should schedule the visit between days 3 and 8 of the menstrual cycle; those who do not have regular periods may have the visit at any time of the month. In addition, all estrogen-based treatments (such as birth control pills) must be stopped for 2 weeks prior to the study visit.

- Participants will have a full physical examination, provide a medical history, and provide blood samples for immediate and future testing. Participants will return for yearly visits for the same tests for as long as the study continues.

- Participants who have or develop primary ovarian insufficiency related to the FMR1 gene will also have tests to measure bone thickness and will have a vaginal ultrasound to examine the ovaries. These tests will be scheduled for a separate visit, and will be repeated every 5 years for the duration of the study.

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Eligibility

INCLUSION CRITERIA:

1) Women ages 18 and older

2) FMR1 CGG repeats numbering between 55 and 199, as determined by standard Southern blot and PCR techniques.

EXCLUSION CRITERIA:

1) Males

2) Children

3) Women who do not have an FMR1 pre-mutation (CGG repeat number < 55 or > 199)

4) Inability to make personal medical decisions

CRITERIA FOR SCREENING FOR THE FMR1 PRE-MUTATION:

1) Family history of Fragile X syndrome or mental retardation

2) Personal or family history of primary ovarian insufficiency (or POF or premature menopause )

3) Personal or famiy history of tremor ataxia syndrome or Parkinson's disease

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Citations:

Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009 Feb 5;360(6):606-14

Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev. 2002 Jun;12(3):278-83

Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM. The FMR1 premutation and reproduction. Fertil Steril. 2007 Mar;87(3):456-65. Epub 2006 Oct 30

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Contacts:

Principal Investigator	Referral Contact	For more information:
Lawrence M. Nelson, M.D. National Institute of Child Health and Human Development (NICHD) National Institutes of Health BG 10-CRC RM 1-3140 MSC 1109 10 CENTER DR BETHESDA MD 20892-1109 (301) 402-6608 nelsonl@mail.nih.gov	Lawrence M. Nelson, M.D. National Institute of Child Health and Human Development (NICHD) National Institutes of Health BG 10-CRC RM 1-3140 MSC 1109 10 CENTER DR BETHESDA MD 20892-1109 (301) 402-6608 nelsonl@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT01187524

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