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

NCT01187524 | Terminated

• 2 other identifiers: 10014410-CH-0144
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fragile X Syndrome; FMR1 Premutation; Primary Ovairan Insufficiency; Premature Ovarian Failure; Premature Menopause

Keywords

Patient Registry; FMR1 Gene; Fragile X Syndrome; Primary Ovarian Insufficiency; Premature Ovarian Failure; Premature Ovarian Insufficiency

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Women ages 18 and older
• FMR1 CGG repeats numbering between 55 and 199, as determined by standard Southern blot and PCR techniques.

You may not qualify if:

• Males
• Children
• Women who do not have an FMR1 pre-mutation (CGG repeat number \<55 or \>199)
• Inability to make personal medical decisions
• CRITERIA FOR SCREENING FOR THE FMR1 PRE-MUTATION:
• Family history of Fragile X syndrome or mental retardation
• Personal or family history of primary ovarian insufficiency (or POF or premature menopause )
• Personal or famiy history of tremor ataxia syndrome or Parkinson s disease

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009 Feb 5;360(6):606-14. doi: 10.1056/NEJMcp0808697.

  PMID: 19196677 BACKGROUND

• Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev. 2002 Jun;12(3):278-83. doi: 10.1016/s0959-437x(02)00299-x.

  PMID: 12076670 BACKGROUND

• 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. doi: 10.1016/j.fertnstert.2006.09.004. Epub 2006 Oct 30.

  PMID: 17074338 BACKGROUND

MeSH Terms

Conditions

Fragile X Syndrome; Primary Ovarian Insufficiency; Menopause, Premature

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Lawrence M Nelson, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: OTHER
• Sponsor Type: NIH

Study Record Dates

• First Submitted: August 21, 2010
• First Posted: August 24, 2010
• Study Start: August 5, 2010
• Study Completion: May 31, 2013
• Last Updated: October 6, 2017

Record last verified: 2013-05-31

Locations

US (1)