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Protocol Details

Mapping the Phenotype in Adults with Phelan-McDermid Syndrome

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

19-M-0054

Sponsoring Institute

National Institute of Mental Health (NIMH)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 0
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Intellectual Disability;
SHANK3;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Phelan-McDermid Syndrome;
Intellectual Disability;
Autism Spectrum Disorder

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Mental Health

Background:

Phelan-McDermid syndrome (PMS) is caused by a loss of 1 copy of the SHANK3 gene. People with PMS have developmental delays or intellectual disability. They may also have delayed or no speech, or autism. PMS in people ages 3 21 is being studied. As they age, PMS may cause a greater risk of psychiatric problems. But less is known about the illness in later adulthood. Researchers want to learn more about PMS in adults and its genetic factors.

Objective:

To learn about PMS and to identify genetic factors that contribute to its diverse symptoms.

Eligibility:

Adults ages 22 and older who have PMS

Their healthy biological parents and siblings

Design:

This study can be done in 1 visit that lasts 4 8 hours or over a few days.

Family members of participants will give blood and/or saliva samples. If needed, they can submit the samples by mail.

Participants will give blood and/or saliva samples.

Participants will have a physical exam. Their head size, height, and weight will be measured.

Participants will be asked to let researchers use data from any recent scans or imaging tests.

Participants will complete questionnaires about their family and medical history as well as their symptoms and functioning. Their parents may be asked to do this for them.

Participants will do cognitive tests. They will answer questions, remember words or symbols, solve problems, or play games.

For participants who cannot participate in person, some tests can be done by phone or video chat. Other tests, questionnaires, and samples can be done by mail.

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Eligibility

INCLUSION CRITERIA:

Subjects

-Participant is 22 years of age and older at time of enrollment

-Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene

-Participant is proficient in English

-Participant provided consent

Healthy Volunteers (Parents and Siblings of Subjects)

-Biological first degree relative to a participating subject of all ages.

-Participant has the capacity to provide consent or a guardian who may provide consent on their behalf.

-Participant or their guardian, as applicable, is proficient in English

-Participant or guardian, as applicable, provided consent

EXCLUSION CRITERIA:

None


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Audrey E. Thurm, Ph.D.
National Institute of Mental Health (NIMH)
NIHBC 10 - CLINICAL CENTER BG RM 1C250
10 CENTER DR
BETHESDA MD 20892
(301) 496-6768
at191u@nih.gov

Glennis Muldoon
National Institute of Mental Health (NIMH)
National Institutes of Health
Building 10
Room 1C250
10 Center Drive
Bethesda, Maryland 20892
(301) 451-7822
glennis.muldoon@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT03426059

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