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*last updated on 3/4/2026*

Profiling Responses and Immune Signatures in SHANK3-Mediated Neuropsychiatric Disease (PRISM)

*This study is supported by the 2025 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant*

Research team: Dr. Jonathan Santoro (Children’s Hospital Los Angeles) and Strategic Therapies for Overcoming Reactive iMmunololgy (STORM) Lab

Type of Study: In-person

Time commitment: Attend 2 study visits over 6 months (study procedures: blood collection, extra cerebrospinal fluid taken during a routine standard of care lumbar puncture, information recorded in medical record, data and samples stored in a data and sample bank for use in future research.).

Compensation: Reimbursement for each study visit for travel (up to $50 if traveling 50 miles or less; up to $250 if traveling over 50 miles)

Rationale: This research is being done to find out if immune dysregulation contributes to the symptoms of neuropsychiatric disease in Phelan-McDermid syndrome. This research will ideally lead to improved longitudinal outcomes.

Eligibility: 

  • Diagnosis of Phelan-McDermid syndrome
    • Must also meet criteria for possible or probable PMS-ND as determined by the study doctor
  • 5-30 years old
  • Onset of new neurological or psychiatric symptoms within a period of 12 weeks
  • Answer a few questions in an interview with a member of the study team so we can confirm that you qualify for this study

Enrollment: Contact dsresearch@chla.usc.edu or call 323.607.3505.

Phelan-McDermid Syndrome Neuropsychiatric Measure Development Study

*This study is supported by the 2024 Shannon O’Boyle Memorial Neuropsychiatric Illness Grant*

Research team: 

  • Tess Levy, CGC, Seaver Autism Center, Icahn School of Medicine at Mount Sinai
  • Pilar Trelles, MD, Boston Children’s Hospital, Harvard Medical School

Type of Study: Virtual

Time commitment: 1-2 hours

Compensation: $50

Rationale: The purpose of this research study is to provide feedback on a survey, designed with caregivers, clinicians, and other relevant experts, to capture change in psychiatric features in response to intervention (medication, therapy), to help prepare for clinical trials. This part of the Phelan-McDermid Syndrome Inventory of Psychiatric Symptoms (PIPS) study will require caregivers to download a cell phone application, complete the PIPS-P form, fill out a feedback survey, and complete measures related to sleep, behavior, and mood.

Eligibility: 

  • Caregivers of individuals with Phelan-McDermid syndrome who have psychiatric symptoms
  • Caregivers must be able to read/understand English

Enrollment: Please contact Stella Chukwulozie (Clinical Research Coordinator) at stella.chukwulozie@mssm.edu.

In-Home Gastrointestinal Transit Test Among People with Phelan-McDermid Syndrome

*This study is funded by the 2024 PMSF Translational Grant*

Research team:

  • Dr. William (Billy) Bennett at Indiana University
  • Dr. Julia Dallman at University of Miami
  • Dr. Barbara Millet at University of Miami
  • Dr. Baharak Moshiree at Wake Forest University
  • Dr. Calliope Holingue at Kennedy Krieger Institute.

Type of Study: Virtual/In-home

Time commitment: One month of symptom-tracking and two gut transit meals

Rationale: Gastrointestinal (GI) symptoms are common and negatively impact quality of life among people with Phelan-McDermid syndrome. These symptoms include constipation, which may be related to altered movement of the gut called motility. Current GI motility tests are difficult to do in people with Phelan-McDermid syndrome. We have developed an alternative objective measure of GI transit: muffins with blue food coloring and a mobile app to allow caregivers to track GI transit time at home. In this phase of the study, caregiver(s) of someone with Phelan-McDermid syndrome will track GI and related symptoms for one month using the STRiPES mobile application and measure whole-gut transit time two times using muffins with blue-food-coloring. This study is a first step towards developing evidence-based treatment strategies to better manage GI symptoms in individuals with Phelan-McDermid syndrome.

Eligibility: 

  • Individual with Phelan-McDermid syndrome 4 years or older
  • Live in the United States
  • Must eat by mouth (individuals fed by tube will be included in a future phase of the study)

Enrollment: https://redcap.link/bluemealstudy.com 

Phelan-McDermid Syndrome Neuropsychiatric Illness Study

*Please note: this study will be accepting participants through 9/17/25*

*This study is supported by the 2023 PMSF Neuropsychiatric Illness Grant*

Research team: Milena Andzelm, MD PhD, Boston Children’s Hospital

Type of Study: Virtual

Time commitment: The time commitment will vary according to which part is participated in.

There will be an initial 30 minute visit, which can be virtual, to enroll in the study. The questionnaires in Part 1 will take a total of about 30-90 minutes to complete. Part 2 will not require additional time beyond consenting for collection of medical records. Part 3 will take 1-2 hours at Boston Children’s Hospital for the blood draws.

Compensation: There is no compensation to the participants. At the end of the study once study results are analyzed, information on the results will be distributed to participants.

Rationale: This study aims to understand why some people with Phelan-McDermid syndrome develop serious neuropsychiatric illness (SNPI) in their teenage years or early adulthood. The SNPI often involve major changes in mood, sleep, activity, behavior, and sometimes a loss of skills they previously had. Standard psychiatric medications usually don’t work well for individuals with Phelan-McDermid syndrome, but some have shown improvement with treatments that target the immune system. The study will explore whether there are differences in the immune system in people with Phelan-McDermid syndrome that are related to SNPI and identify specific treatments that might help.

Eligibility: 

  • Participants must have genetic testing results showing Phelan-McDermid syndrome due to deletion or ring affecting SHANK3, or a pathogenic SHANK3 variant.
  • Participants must be age 10 years or older WITH OR WITHOUT any psychiatric illness or significant loss of skills.
  • Caregiver must be fluent in English

Enrollment: For additional information regarding this study, please contact Milena Andzelm at PMSimmunestudy@childrens.harvard.edu 

Developmental Regression in Phelan-McDermid Syndrome

Research team: 

  • Jonathan Santoro, M.D., Neurology, Children’s Hospital Los Angeles (CHLA)
  •  Kevin Frost, Medical Student, USC Keck School of Medicine

Type of Study: Virtual

Time commitment: 20 minutes

Compensation:  None

Rationale: The purpose of the study is to investigate developmental regression in Phelan-McDermid syndrome. The investigators are interested in understanding how often regression happens in individuals with Phelan-McDermid syndrome and identifying the signs and symptoms of neurocognitive and neuropsychiatric regression in this population.

Eligibility: 

  • English-speaking caregivers (over the age of 18) of individuals with Phelan-McDermid syndrome

Enrollment: Link to survey: https://redcap.link/PMS.Regression 

Additional questions? Contact dsresearch@chla.usc.edu or (323) 607-3505

ROSCO: Rapid Online Sample of Communication for Individuals with Phelan-McDermid Syndrome (PMS)

*This study is supported by the 2024 PMSF Innovation Grant*

Research team: 

  • Kristy Johnson, PhD, Northeastern University, Neurodevelopmental Dynamics Lab (NDD Lab)

Type of Study: Virtual/In-home

Time commitment:

  • One study visit is 3 hours, the individual with PMS only needs to be present for 15 minutes. There are four study visits total over 6 months

Compensation:  Receive up to $220 for participation

Rationale: The study aims to understand and track communication in individuals with Phelan-McDermid Syndrome (PMS) who have limited spoken speech

Eligibility: 

  • Parents or Caregivers of an individual with Phelan-McDermid syndrome
  • Individual with Phelan-McDermid syndrome has limited spoken speech (fewer than 200 spoken words)
  • Ages 4-18 years old
  • Individual and Caregivers are not deaf or hard of hearing
  • English is the primary spoken language in the home
  • Located in the US

Enrollment: To participate, visit: https://redcap.link/rosco-pms

For questions, email nddlab@northeastern.edu or to learn more more about the study visit https://nddlab.sites.northeastern.edu/active-studies/

Web Intervention for Parents of Youth with Genetic Syndromes (WINGS)

Research team: 

  • Latha V. Soorya, PhD, BCBA, Associate Professor, Department of Psychiatry and Behavioral Sciences, Rush University
  • Allie Wainer, PhD, Assistant Professor, Department of Psychiatry and Behavioral Sciences, Rush University

Type of Study: Virtual/In-home

Time commitment:

  • 60-minute weekly therapy sessions with licensed clinician. 
  • Weekly home-based practice activities 
  • Monthly meetings with study evaluators 
  • Total study duration up to 7 months

Compensation:  Receive up to $305 for participation

Rationale: The Web Intervention for Parents of Youth with Genetic Syndromes (WINGS) study is a telehealth intervention study targeting challenging behaviors through behavioral support and strategies to parents of children with intellectual disabilities. This study will compare the effectiveness of two behavioral interventions: an adapted, telehealth functional behavioral therapy (FBTsIDD) and an evidence-based positive parenting intervention (PPT).

Eligibility: 

  • Children aged 2-12 years at the time of study enrollment
  • Children with an existing genetic syndrome, diagnosed clinically and confirmed by medical records (including Phelan McDermid Syndrome).
  • Children with a documented diagnosis of global developmental delay (GDD) or intellectual disability (ID). Children should have an estimated ID level in the moderate, severe, or profound range.
  • Children exhibiting disruptive behavior challenges, deemed clinically appropriate for remote, parent-implemented coaching (based on the clinician’s determination of the acuity of problem behaviors)
  • Parent/caregiver able to provide consent in English
  • Parent/caregiver available for weekly intervention sessions
  • Stable psychosocial and psychiatric treatments for the 3 months preceding the first visit

Enrollment: If you’re interested in participating and/or want to speak to one of the study team members, complete the interest form here: https://redcap.link/l6qft1fs

Additional questions? Contact WINGSStudy@rush.edu or 312-563-2844. 

Visit the study website: https://wingsstudy.wixsite.com/wingsresearchstudy

Early Childhood Natural History Study in Phelan-McDermid Syndrome

Research team: 

  • Boston Children’s Hospital (Boston, MA) – Dr. Sid Srivastava
  • Mount Sinai (New York, New York) – Dr. Alex Kolevzon
  • Rush University (Chicago, IL) – Dr. Elizabeth Berry-Kravis

Type of Study: The study involves 2 in-person visits a year to one of the three sites over the course of 5 years.

Time commitment: Each visit will involve approximately 7-8 hours of testing spread out over the course of 1 or 2 days.

Compensation:  A complete report of testing that can be used for additional services. Travel reimbursement offered for up to $1,600. Please reach out to travelprogram@pmsf.org for more information on travel support. 

Rationale: The study aims to gain a better understanding of individuals with Phelan-McDermid syndrome so that effective treatments and interventions can be used.

Eligibility: 

  • Ages 12-36 months
  • Individuals with both deletions and sequence variants of SHANK3

Enrollment:

Neurodevelopmental Disorders-Health Index Study, Phase 4

Research team: 

  • Chad Heatwole, MD, MS-CI
    University of Rochester, Rochester, NY, USA
    Center for Health + Technology (CHeT); Outcomes Division

Type of Study: Virtual

Time commitment: The study involves completing an online survey twice within two weeks (~20 minutes each time).

Compensation: None

Rationale: Researchers at the University of Rochester are creating a caregiver-reported outcome tool that will measure the health, symptoms, and disease burden of individuals with a neurodevelopmental disorder (NDD), including Smith-Magenis Syndrome (SMS) / RAI1, SCN2A, SHANK3 / Phelan McDermid syndrome, SYNGAP1 deficiencies and Fragile X Syndrome (FXS). 

The purpose of this study is to develop and validate two disease-specific, observer-reported outcome measures for clinical trials of patients with RAI1, SCN2A, SHANK3/Phelan-McDermid syndrome, SYNGAP1, and Fragile X syndrome. 

Eligibility: 

  • Be 18 years old or older
  • Live in the United States
  • Be a caregiver for an individual who is diagnosed with RAI1, SCN2A, SHANK3/Phelan-McDermid syndrome, SYNGAP1 deficiencies or Fragile X syndrome
  • Have the capacity to provide informed consent

Enrollment: If interested in participating, contact the study coordinator:

Mortality in Phelan-McDermid Syndrome: A Comprehensive Retrospective Analysis Study

Research team: PMSF in collaboration with Mount Sinai Hospital, Dr. Alex Kolevzon

Type of Study: Virtual

Time commitment: 60 minutes

Compensation: None

Rationale: The study aims to identify patterns or similarities in causes of death to enhance our understanding of Phelan-McDermid syndrome and provide insights to the community.

Eligibility: 

  • Families whose loved one passed away since January 2015, with records available in English and Spanish.

Enrollment: If you have experienced a loss and would like to learn more about participating, or if you would like to contribute to this important research, please contact Dr. Alex Kolevzon at alexander.kolevzon@mssm.edu.

Interview Study on Phelan-McDermid Syndrome

Research team: Research Triangle Institute (RTI) International

Type of Study: Virtual Interview

Time commitment: The time commitment is a one-time interview lasting about 60 minutes.

Compensation: None

Rationale: This study aims to gather feedback on how to make a questionnaire more relevant for people with Phelan-McDermid syndrome.

Eligibility: 

  • Participants must be the 18 years or older and the parent or legal guardian of an individual with Phelan-McDermid Syndrome.
  • Participants are willing to be audio recorded during a one-time interview.

Enrollment: If interested in participating, please fill out this study screener: https://redcaplh.rti.org/tvd/surveys/?s=WPENC3CD9KEANCCC 

Global Epilepsy Needs Study (GENS)

Research team: GENS is conducted by the International Bureau for Epilepsy (IBE) in partnership with a patient research organization, MediPaCe and 19 of IBE’s member organizations (national epilepsy support groups).

Type of Study: Virtual

Time commitment: ~30 minutes

Compensation: None

Rationale: The goal of the study is to collect detailed information and insights from people with epilepsy and their caregivers to better understand their experiences, challenges, and needs. This information will be used to drive meaningful change in global policy, research, and healthcare programs to improve the lives of people with epilepsy.

Eligibility: 

  • Participants should be 18 years or older and either an individual living with epilepsy or a caregiver of an individual with epilepsy.

Enrollment: If interested in participating, please use this survey link:

https://qualicis.eu.qualtrics.com/jfe/form/SV_2lOqDBW92dFPQdo?Q_lang=EN&Gens=US 

For more information on this research study including a list of FAQs, please visit https://www.ibe-epilepsy.org/initiatives/global-epilepsy-needs-study-gens/.

Phelan-McDermid Syndrome SHANK3 Unrelated Research Study

Research team: Katy Phelan, PhD, FACMG, Director, Genetics Laboratory, Florida Cancer Specialists & Research Institute

Type of Study: Virtual

Time commitment: The time commitment will vary according to how long it takes to gather genetic report(s) and clinical reports. 

Compensation: There is no compensation to the participants. Upon completion of the study, once study results are analyzed, a report will be published in the literature to educate the genetics community about the PMS-SHANK3 unrelated and to raise awareness of these individuals in the medical community.

Rationale: This study aims to investigate the physical and behavioral features of individuals with Phelan-McDermid syndrome who have an intact SHANK3 gene (PMS-SHANK3 unrelated). Unlike most individuals with Phelan-McDermid syndrome, who have PMS-SHANK3 related due to a deletion or pathogenic variant in the SHANK3 gene, those with PMS-SHANK3 unrelated have not been extensively studied and are often excluded from research.

The study will compare the features of individuals with PMS-SHANK3 unrelated to those with PMS-SHANK3 related, aiming to identify similarities and differences between the two groups. This research will provide valuable information to families about the course of PMS-SHANK3 unrelated in their children and contribute to the broader understanding of this condition in the genetics and medical communities.

Eligibility: 

  • Participants must have genetic report describing the deletion (PMS-SHANK3 unrelated) and clinical reports of the physical/behavioral features.

Enrollment: If interested in participating or for additional information regarding this study, please contact Dr. Katy Phelan at kphelan@flcancer.com

Identifying translational sleep biomarkers in autism

Research team: Massachusetts General Hospital, Dr. Dara S. Manoach

Type of Study: Participation can be in a hybrid format (remote/in-person at the Lurie Center for Autism in Lexington, MA) or entirely remote and will entail 2 sessions with the study team

Time commitment: Wearing a sleep headband for 3 nights at home, complete daily questionnaires, complete a sleep diary

Compensation: Up to $350 for completing study tasks, plus reimbursement for parking or transportation

Rationale: Sleep disturbances and differences in sensory processing (being over/under responsive to sounds, sights, or touch) are common in individuals with PMS. Furthermore, sleep disturbances can have a negative impact on waking functioning and daily life for individuals with PMS and their families. This study is focused on sleep physiology (i.e., spindles) in PMS. Since sleep spindles are believed to be an assay of TRN functioning, studying sleep physiology could help us understand the origin of sleep disturbances and sensory processing differences in PMS, which could be used as a target for new treatments.

Eligibility: 

  • 12-19 years old diagnosed with Phelan-McDermid syndrome
  • Minimally or non-verbal and/or intellectual disability

Enrollment: If interested in enrolling, or for more information, contact the study coordinator at

(617)-453-8304 or via email at mghluriecentersleepheadbandstudy@mgb.org.

Ring Chromosome 22 and the Risk for NF2-Related Tumors Study

Research team: Carlijn Frantzen MD, Clinical Geneticist of the University Medical Centre Groningen, Netherlands, Department of Genetics; Coordinator of the Centre of Expertise for Phelan-McDermid syndrome

Type of Study: Virtual

Time commitment: 10-20 minutes

Compensation: None

Rationale: This study aims to collect information and data about the increased risk for benign tumors that are observed in individuals with Phelan-McDermid syndrome due to a ring chromosome 22. This is a long-lasting study where the research team will collect information from the individual with Phelan-McDermid syndrome’s doctor every year. The goal is to better understand the life-time chance of developing tumors and at what age these tumors occur. It is estimated that the study will run for approximately 20 years before enough information is collected. However, results could be published sooner depending on the number of families that participate.

Eligibility: 

  • Individuals with a Phelan-McDermid syndrome diagnosis and Ring Chromosome 22 diagnosis

Enrollment: If you are interested, please click here to access the consent form for your doctor to fill out and email to 22q13@umcg.nl. Questions? email: 22q13@umcg.nl

Parent-Infant Inter(X)Action Intervention (PIXI) Research Study

Research team: Led by Anne Wheeler, PhD, RTI International

Type of Study: In-person

Time commitment: 24-36 months

Compensation: None

Rationale: The primary purpose of this research study is to develop an innovative program aimed at assisting infants who have been diagnosed with specific genetic disorders that have the potential to cause developmental delays. The program, widely known as PIXI, will provide parents with the necessary knowledge and skills to understand their child’s condition and interact with them in a manner that fosters their development. Additionally, families will receive holistic support to promote their well-being throughout the process. The efficacy and ease of use of the program will be scrutinized and evaluated through testing.

Eligibility: 

  • Infants 12 months of age or younger who have received a diagnosis which was not sought solely due to parental concerns about the infant (e.g. diagnosis due to prenatal or newborn screening, cascade testing following diagnosis of a family member).
  • English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English.
  • Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.

A full list of inclusion and exclusion criteria can be found at ClinicalTrials.gov.

Enrollment: This clinical study is enrolling by invitation only. 

    • Research Triangle Park, North Carolina, United States, 27709

    RTI International

Please let PMSF know if you are interested at info@pmsf.org.