PARTICIPATE IN RESEARCH
Research is our best hope for advancing treatments and eventually finding a cure for Phelan-McDermid syndrome (PMS). CureSHANK supports important research being conducted by scientists and doctors, and we encourage families to participate in this process as well.
Patients and caregivers can participate in research by sharing information so that researchers can understand how Phelan-McDermid syndrome affects individuals and their caregivers. By volunteering for clinical studies or trials, patients help researchers to learn how new treatments affect patients.
The following list shows the current clinical studies and trials with links to more information.
Check back often, as new opportunities to participate in research will be added frequently.
Active Clinical Research Studies • Active Clinical trials • Completed Studies & Trials
Active Clinical Research Studies
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Milestone Survey: Help Advance Research in Phelan-McDermid syndrome
Study Type: Online Research Study of Developmental Milestones
Age Range: Ages 2 to 30
Location: Virtual (USA)Caregivers of individuals with Phelan-McDermid syndrome (PMS) are invited to participate in an online research study of developmental milestones.
This research study aims to better understand how developmental milestones, or skills, change over time in individuals living with PMS. Understanding how skills are gained, lost, or regained helps researchers better understand PMS. The input from this study may help inform further research and potential treatments in the future.
Fully Remote Participation. All study activities take place online. Surveys can be completed at home and saved to finish later at your convenience.
You May Qualify If:
* You are an adult and are a caregiver of someone with Phelan-McDermid syndrome
* You are willing to complete an online survey at three time points over the next 12 months
* You are willing to share developmental milestone information and documentation when available
* Your loved one is between ages 2 and 30
* You can complete surveys in EnglishFinal eligibility will be determined by the study team based on study requirements.
Compensation: Compensation is provided after the completion of each study-related survey (up to $1,000). Compensation details will be outlined in the Informed Consent Form, and the study team will answer any questions you may have.
Webinar Recording: Jaguar Gene Therapy hosted a virtual webinar for caregivers to gain a better understanding of the study’s goals, structure, and what participation may look like. Watch the webinar recording here.
Contact JaguarPMSStudy@premier-research.com for more details.
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Assessment of Social Difficulties in PMS Individuals
Study Type: Online Questionnaire
Age Range: All Ages
Location: VirtualThis questionnaire is designed to assess social difficulties, such as difference in social motivation, social skill and social emotion sharing ability, experienced by people with Phelan-McDermid Syndrome (PMS) or SHANK3 mutations for research purposes.
Respondents will have the option to share medical record information such as genetic diagnosis, neuropsychiatric diagnosis, etc. If the respondent chooses this option, they will be required to sign a consent form before scanning and uploading any documents.
Estimated Completion Time: 5-10 minutes
Please contact meaghan.donahue@yale.edu or sheng-nan.qiao@yale.edu if you have any questions regarding this study.
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Burden of illness: PMS Caregiver Survey
Study Type: Online Survey
Age Range: 4 years or older
Location: Virtual (USA)
This study aims to better understand the full impact of Phelan-McDermid syndrome on individuals and their caregivers. This includes healthcare needs, daily life impact, and out-of-pocket costs that families experience. If you are a parent or family caregiver of someone with PMS-SHANK3, you may be eligible to participate.
By sharing your family’s experience, you can help generate the evidence needed to advance research, inform treatment development, and advocate for better support for PMS families.To participate you must:
* Be 18 years old or older
* Be one of the primary caregivers of a family member with PMS who is aged 4 years or older, and be their parent, legal guardian, or legally authorized representative
* The individual you care for must have been diagnosed with PMS-SHANK3 in the US and be receiving healthcare in the US
* Be able to provide a genetic testing report confirming PMS-SHANK 3 deletion or mutation
You will not be eligible to participate if:
* You provide care for this individual as part of your paid employment, and you have no family relationship with them
* Another family member who is also a caregiver has already completed the survey
Compensation: Receive a minimum of $50 upon survey completion
Contact the research team at PMSsurvey@broadstreetheor.com for more details. -
Testing a Novel Device to Study Sleep at Home in Children with Profound Autism
Study Type: Research study
Age Range: 12-19 years old
Location: Boston (Lexington), MAUPDATE: This study now has a REMOTE option, for patients in the continental in the United States. The purpose of this study is to validate the use of a wearable, at-home EEG device to measure sleep in individuals with profound autism/cognitive impairment. This population has been historically excluded from autism sleep research due to challenges with the lab setting, despite interrupted sleep being a frequently reported challenge. CureSHANK is jointly sponsoring this study with the Autism Science Foundation to ensure that it includes individuals with Phelan-McDermid syndrome (PMS). Participants must have a Phelan-McDermid syndrome diagnosis and struggle with interrupted sleep. Participants will be compensated up to $400 for completing study tasks and reimbursed for parking/transportation. It is not necessary for participants to have an autism diagnosis. Participants may be diagnosed with seizures, but seizures must be currently controlled. Participants may not have additional neurological disorders besides PMS.
Contact the study coordinator at 617.917.4395 or mghluriecentersleepheadbandstudy@mgb.org. Please reach out to the study coordinator even if you are not sure whether your child will qualify!
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Observer Reported Toileting Abilities Survey
Study Type: Research study
Age Range: PMS any age; siblings aged 1-6
Location: Virtual
ORTAS Toileting Survey: Seeking PMS caregivers and PMS siblings aged 1-6 to be beta-testers completing a 20-30 minute survey on toileting.COMBINEDBrain is piloting a toileting abilities survey and is seeking 200 participants to be beta testers, including caregivers of people with PMS and their siblings aged 1-6 as controls.
Email ORTAS@combinedbrain.org to inquire about participating!
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Expanding the Observer-Reported Communication Ability (ORCA) Measure
Study Type: Research study
Age Range: 2+ years
Location: VirtualThe ORCA Measure is a questionnaire that assesses the communication ability of individuals with neurodevelopmental disorders that significantly impact verbal speech. The intended use of the ORCA Measure is to assess an individual's baseline communication ability level and subsequent changes in communication ability over time in a research study. The measure's content was originally developed for Angelman syndrome (AS) and has also been validated in Rett syndrome. With a grant from the FDA, the ORCA measure is currently being evaluated for twelve other neurodevelopmental disorders, including Phelan-McDermid syndrome (PMS) thanks to CureSHANK’s membership in CombinedBRAIN. CureSHANK is coordinating with the Phelan-McDermid Syndrome Foundation (PMSF) to recruit PMS families in two stages in 2024.
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Investigating Mechanisms Underlying Perceptual Integration in Autism
Study Type: Research study
Age Range: 11-21 years old
Location: Virtual
The goal of this study is to characterize the differences in perceptual decision making between individuals with Autism Spectrum Disorder (ASD) and neurotypicals. The study approach involves the use of a custom video game to measure working memory and visual evidence accumulation. As participants play the game, the computer records their perceptual judgments to a range of visual stimuli. The judgments can then be used to evaluate computational models of decision making. A key feature of the game is that participants can learn to play without verbal or written instructions. This will enable researchers to characterize differences in perception across a range of participants with ASD, including those with difficulty following verbal instructions, who are typically underrepresented in psychophysical studies. This study will use the game to test participants online (remotely) through Zoom. Ultimately the data collected using this approach will enable researchers to quantitatively evaluate several cognitive models of autism. In addition, the data will help facilitate evaluation of rodent models of autism in the future, by providing a direct comparison against the performance of rats and mice trained to perform a behavioral task that closely mirrors the video game used in this study.
Contact the project coordinator at GEODE.online.experiment@gmail.com to inquire about participation!
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PHELAN-McDERMID SYNDROME NATURAL HISTORY STUDY
Study Type: Natural history
Age Range: 12-36 months
Locations: New York, NY; Chicago, IL; Boston, MA
Support the development of Phelan-McDermid syndrome treatments by participating in natural history studies! A strong, robust set of natural history data better supports potential treatment approvals for Phelan-McDermid syndrome. Participating in natural history studies is an effective way to improve the odds of success for Phelan-McDermid syndrome treatments to be developed and approved.
Travel stipends may be available through the Phelan-McDermid Syndrome Foundation (PMSF).
Contacts
NYC: Icahn School of Medicine at Mt. Sinai Serena.cai@mssm.edu
Chicago: Rush University Medical Center Madison_t_nava@rush.edu
Boston: Boston Children’s Hospital Anna.cronin@childrens.harvard.edu
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RTI PMS-SPECIFIC ENDPOINT STUDY
Study Type: Caregiver impression of change (CIC) measure
Age Range: Children with PMS 3-14 years old; 2 caregivers 18+ years
Location: Virtual/in-home
Time commitment:
* 5 hours over 13 weeks
* Complete CIC form at baseline, 14 days, 21 days, and at 13 weeks from the start
* The first and fourth time caregivers complete the CIC, they will also complete a brief survey over the phone.
Compensation: Receive $75 per completed assessment round (up to $300 total)
Rationale: Assessing the test-retest reliability of a caregiver-reported instrument meant to measure changes in their loved one during a clinical trial.
Eligibility:
This study is voluntary and participants can drop out at any time.
* Must include two adult caregivers able to speak, read, and understand English fluently
* Self-reported diagnosis of child aged 3-14 years with Phelan-McDermid syndrome by a health care provider
* Must have access to a reliable, high-speed internet connection to accommodate virtual interviewing via teleconferencing
* Must have a computer with a screen large enough to easily view documents via screen sharing
* Willing to be audio recorded during the interview
If you are interested in participating in the study, please complete this screener.
Enrollment: If you’re interested in participating and/or want to speak to one of the study team members, contact Emily Cheves at echeves@rti.org .
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BAYLOR COLLEGE OF MEDICINE NATURAL HISTORY STUDY OF EPILEPSY IN PMS
Study Type: Observational
Age Range: All ages
Location: Virtual/in-home
Eligibility: Individuals with epilepsy or a history of seizures, individuals with Phelan-McDermid syndrome (PMS) of all ages (children, teens, and adults).
Your participation will help guide future research and care for all patients, and will advance the understanding of epilepsy.
Participation involves granting permission for the study team to access the individual’s medical records. The study will collect data such as medical and seizure history, medication details, and diagnostic imaging reports. All information is confidential and de-identified for research use only.
Contact Jimmy L. Holder, Jr. MD, PhD at holder-lab@bcm.edu for details and participation information.
Active Clinical Trials
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JAG201 Gene Therapy Study in Children & Adults with SHANK3 Haploinsufficiency
Study Type: Interventional trial
Age Range: 2-9 years old
Locations: Chicago, New York, BostonThis is a Phase 1/2, first in human, open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of JAG201 administered via intracerebroventricular (ICV) injection in pediatric and adult participants with SHANK3 haploinsufficiency resulting from SHANK3 loss of function mutations and chromosomal deletions encompassing the SHANK3 gene. Clinical data will be evaluated for safety, tolerability, and preliminary clinical activity of JAG201 in pediatric and adult participants with SHANK3 haploinsufficiency. The pediatric cohorts will start enrolling first and the enrollment for adult cohorts may be initiated at a later timepoint in the study. See Jaguar’s October 2025 clinical trial statement and updated FAQ for more information.
This study has 3 locations:
Chicago, Illinois, United States
Rush UniversityContact: Giulia DiMarco
(312) 942-9841 giulia_dimarco@rush.edu
Principal Investigator: Elizabeth B Kravis, MD, PhDNYC, New York, United States
Seaver Autism Center at Mount SinaiContact: Serena Cai
212-241-6231 serena.cai@mssm.edu
Principal Investigator: Alex Kolevzon, MDBoston, Massachusetts, United States
Boston Children’s HospitalContact: Anna Cronin
617-919-3499 anna.cronin@childrens.harvard.edu
Principal Investigator: Siddharth Srivastava, MD -
Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome
Study Type: Interventional trial
Age Range: 2-40 years old
Location(s): Messina, ItalyThis double-blind, cross-over, randomized, controlled trial (RCT) has the aim of evaluating the effectiveness of a metabolic support therapy in two cohorts of patients with idiopathic Autism Spectrum Disorder or Phelan-McDermid syndrome, commonly associated with syndromic autism. Each patient will receive Q10 ubiquinol + Vit. E and B for 4 months and only Vit. E and B for 4 months in a double-blind, cross-over design. Primary outcome measures of efficacy include Vineland Adaptive Behavior Scales, Childhood Autism Rating Scale, Clinical Global Impression-Improvement and Visual Analog Scales; secondary outcome measures include several questionnaires and tests of autism, cognitive function, problem behaviors, quality of life, communication and comorbid disorders, as well as measures of oxidative stress.
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PMS Koala Study for NNZ-2591 - Neuren Pharmaceuticals
Study Type: Interventional
Age Range: 3-12 years old
Locations: California, Illinois, Maryland, Massachusetts, New York, Ohio
This study is evaluating an investigational treatment to see if it can improve how children with Phelan-McDermid syndrome feel and function.
The study drug, called NNZ-2591, is a synthetic version of a substance that occurs naturally in our brains, and has been designed to improve communication between nerve cells and reduce inflammation in the brain.
Each participant will be assigned by chance (like flipping a coin) to receive either NNZ-2591 or a placebo. A placebo is an inactive treatment that looks like NNZ-2591 but does not contain any active ingredient.
This study is enrolling children 3 to 12 years of age who have been diagnosed with Phelan-McDermid syndrome and had their diagnosis confirmed by genetic testing, and weigh at least 10 kg (22 lbs).
Open Label Extension (OLE): The Koala OLE Study is evaluating the long-term effects of the investigational study drug, NNZ-2591, in participants 3-12 years of age with PMS who completed the Phase 3 Koala Study PMS-301 or the Phase 2 Study PMS-001. The Koala OLE study will include a screening/baseline period, a 52-week treatment period with open-label investigational drug NNZ-2591 liquid twice daily (in which there will be on-site clinic visits and a remote visit) and a 2-week follow-up period (following the last dose of the NNZ-2591).
Please email medicalinformation@neurenpharma.com to find out more and see if the Koala study could be a good fit for your child.
Completed Clinical Research studies
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Study Type: Research study
Age Range: 18-months and older
Location(s): Stanford, CA; Chicago; Bethesda, Maryland; Boston; New York, NYThe purpose of this study is to comprehensively characterize Phelan-McDermid syndrome (PMS) using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
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Study Type: Observational
Age Range: 1-21 years old
Location(s): Little Rock, ARThe purpose of this study is to determine whether a relationship exists between gene deletion(s) specific to the mitochondrial electron transport chain and presentation of clinical characteristics in patients with Phelan-McDermid syndrome (PMS).
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Study Type: Observational
Age Range: 22 years and older
Location(s): Stanford, CA; Chicago, IL; Bethesda, MD; Boston, MA; New York, NY; Dallas, TXThe protocol aims to comprehensively define the phenotype of Phelan-McDermid syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work, and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
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Study Type: Interventional
Age Range: 7-18 years old
Location(s): Paris, FranceThere is currently no treatment for the body symptoms of Autism Spectrum Disorders (ASD). However, basic research suggests that some forms of ASD may be alleviated, even in the adult stage. The genes involved in ASDs particularly impact synaptic homeostasis. Specific clinical trials in patients with synaptic mutations need to be carried out. In this spirit, patients with deleterious mutations in SHANK3 represent a paradigm. The induced pluripotent stem cells (iPSc) carrying SHANK3 mutations and derived in neurons, can be used for high-throughput screening of pharmacological substances and allow the identification of compounds that can restore the expression level of SHANK3. The objective of this proposed project is to test one of the compounds identified by research on these iPSc as a novel treatment for social communication deficit in patients with deleterious mutations in SHANK3. Its effect on the symptoms of the social deficit could represent a new perspective for other forms of idiopathic autism.
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Item description.Study Type: Interventional
Age Range: 3-12 years old
Location(s): Chicago, Boston, HoustonThe primary purpose of this study is to investigate the safety, tolerability and pharmacokinetics of treatment with NNZ-2591 oral solution in children and adolescents with Phelan-McDermid syndrome. The secondary purpose is to investigate measures of efficacy. Subjects will receive treatment with NNZ-2591 oral solution (50 mg/mL) doses for a total of 13 weeks.
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Study Type: Research study
Age Range: Caregivers over age 18 of individuals with Phelan-McDermid syndrome
Location(s): Rochester, NY (no travel required)Are you a caregiver for a loved one with Phelan-McDermid syndrome? Do you have 20 minutes to take a survey ? This opportunity to provide insights gained from your caregiving experience is a great way to participate in research. Learn more below or take the survey now!
The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with several Neurodevelopmental Disorders (NDDs), including SHANK3 / Phelan-McDermid syndrome (PMS). The study is being conducted in multiple phases and is currently recruiting for Phase 2, which involves a survey regarding potential symptoms of importance to patients with NDDs, as reported by caregivers. Phase 2 survey respondents must be caregivers, aged 18 and up, of individuals with PMS or one of the other NDDs.
ContactsJennifer Weinstein, jennifer.weinstein@chet.rochester.edu
Charlotte Engebrecht, charlotte.engebrecht@chet.rochester.edu -
Study Type: Research study
Age Range: Individuals of all ages diagnosed with Phelan-McDermid Syndrome and unaffected siblings
Location(s): Multiple locations, April - December 2025Interested in participating in biomarker research? COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders, including CureSHANK. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations and CureSHANK is one of them. Samples collected from the Phelan-McDermid Syndrome community will be stored and available to researchers around the world.
Are you or one of your family members interested in participating in this exciting project for Phelan-McDermid Syndrome? The last opportunity to participate in 2025 is in Atlanta December 4 -5.
https://www.cureshank.org/s/COMBINEDBrain-Biorepository-2025-Roadshow-2.pdf
Completed Clinical Trials
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Study Type: Interventional trial
Age Range: 2-65 years old
Locations: US, Europe, UK, Australia
This is a Phase 3 trial investigating the efficacy, safety, and tolerability of Bexicaserin in the treatment of seizures in children and adults with DEEs. Lundbeck/Longboard Pharmaceuticals is sponsoring the trial.
Bexicaserin (LP352) is a selective serotonin receptor agonist drug that is under development for the treatment of seizures in individuals with developmental epileptic encephalopathies (DEEs), including PMS.
Eligible participants include individuals aged 2 to 65 who have been diagnosed with Developmental and Epileptic Encephalopathies (DEE) and have experienced the onset of seizures from birth to 8 years of age for people with Lennox-Gastaut Syndrome (LGS) or birth to 5 years old for people with DEE (other). Additionally, they have experienced an average of four seizures per month over the past three months.
Please visit https://deepdeestudy.com for more information and to see if your loved one qualifies to take part in the study.
Additional information can be found here: https://clinicaltrials.gov/study/NCT06719141.
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Study Type: Interventional trial
Age Range: 2-65 years old
Location: US (at home, in clinic, or combined)
The EMERALD Study is a Phase 3, randomized, placebo-controlled trial investigating the efficacy, safety, tolerability, and pharmacokinetics of Relutrigine in the treatment of seizures in children and adults with DEEs. Praxis Medicines is sponsoring the trial.
Relutrigine is a first-in-class small molecule with a mechanism of selective sodium channel modulation that is under development for the treatment of seizures in individuals with developmental epileptic encephalopathies (DEEs) including PMS.
Additional information can be found here: https://clinicaltrials.gov/study/NCT0701047
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Study Type: Interventional
Age Range: 2-12 years old
Location(s): New York, NYThis study aimed to evaluate the effect of growth hormone on behavioral outcomes such as the aberrant behavior checklist social withdrawal subscale (ABC-SW) and repetitive behavior scale- revised (RBS-R). The effects of growth hormone on visual evoked potentials were assessed. Growth hormone increases insulin-like growth factor 1 (IGF-1) levels and a previous trial of IGF-1 therapy in PMS children showed improvement in these behavioral scales.
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Study Type: Interventional
Age Range: 5-17 years old
Location(s): New York, NYThis is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study will utilize a randomized, placebo-controlled design for 12 weeks (phase 1), followed by an open-label extension for 12 weeks (phase 2). The purpose is to evaluate the effect of intranasal oxytocin on impairments in attention, social memory, socialization, language, and repetitive behaviors.
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Study Type: Interventional
Age Range: 5-12 years old
Location(s): New York, NYThe purpose of this study is to pilot the use of Insulin-Like Growth Factor-1 (IGF-1) treatment in 22q13 Deletion Syndrome (Phelan-McDermid syndrome) caused by SHANK3 gene deficiency in order to evaluate safety, tolerability, and efficacy. IGF-1 is an injection under the skin that contains human IGF-1. IGF-1 is approved by the FDA under the brand name Increlex for the treatment of children with short stature due to primary IGF-1 deficiency. It is being used off-label in the current study and is not FDA approved, nor has it yet been studied in humans for the treatment of SHANK3 deficiency.
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Study Type: Interventional
Age Range: 12-45 years old
Location(s): Houston, TX; New York, NYThe purpose of this study is to investigate the safety, tolerability and efficacy of a single 6-hour intravenous infusion of AMO-01 to treat adolescents and adults with PMS and co-morbid epilepsy. Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by a chromosomal deletion or mutation at 22q13.3 that contains the SHANK3/ProSAP2 gene. A key co-morbidity in PMS is the presence of epilepsy. Currently there are no approved treatments for PMS. Furthermore, there has been relatively little clinical study of pharmacological interventions for PMS. AMO-01 may provide benefit to PMS patients exhibiting behavioral abnormalities and seizures.
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Study Type: Interventional
Age Range: 1-5 years old
Location(s): Wuxi, Jiangsu, ChinaIn summary, this piot study with 6 participants shown that recombinant human growth hormone (rhGH) has a positive effect on the treatment with PMS. In addition, This study indicated that rhGH can improve PMS symptoms via increase the level of serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3). RhGH may be low cost, more accessible, alternative treatment for PMS.
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Study Type: Interventional
Age Range: 12-99 years old
Location(s): Research Triangle Park, NCThe objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental and social delays.
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Item descripStudy Type: Interventional
Age Range: 2-12 years old
Location(s): New York, NYThis clinical trial will use growth hormone as a novel treatment for Phelan-McDermid syndrome (PMS) and idiopathic autism. A double-blind, placebo-controlled crossover trial design will be used in 30 children with idiopathic autism and 15 children with PMS to evaluate the the effects of growth hormone on visual evoked potentials (VEPs), socialization, language, and repetitive behaviors. The researchers expect to provide evidence for the feasibility of using VEPs in PMS, and to show support for growth hormone in ameliorating clinical symptoms of ASD.
Clinical studies seek to answer questions such as:
Does this investigational drug work?
Does it work better than another medicine already available?
Does it cause any side effects?
Are there any other benefits that could improve patient quality of life?