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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Testing a Novel Device to Study Sleep at Home in Children with Profound Autism
Study Type: Measurement Tool Validation
Age Range: 12-18 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: Outcome Measure Development
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: Outcome Measure Development
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 has coordinated with the Phelan-McDermid Syndrome Foundation (PMSF) to recruit PMS families in two stages in 2024.
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COMBINEDBrain Biorepository
Study Type: Bio-sample Collection
Age Range: Individuals of all ages diagnosed with Phelan-McDermid syndrome and unaffected siblings
Location(s): Multiple locations from Jun to Dec 2023Interested 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 over the next 6-8 months and CureSHANK is one of them. Samples collected from the Phelan-McDermid syndrome community will be stored and available to researchers across 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 this project is in Orlando, FL on November 30 and December 1m
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Development of a Caregiver Reported Outcome Measure for Neurodevelopmental Disorders (Phase 2)
Study Type: Observational
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.
Contacts
Jennifer Weinstein, jennifer.weinstein@chet.rochester.edu
Charlotte Engebrecht, charlotte.engebrecht@chet.rochester.edu -
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Study Type: Observational
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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Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) (Lisphem)
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.
Active Clinical Trials
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JAG201 Gene Therapy Study in Children & Adults with SHANK3 Haploinsufficiency
Study Type: Interventional
Age Range: 2-9 years old
Location:: Chicago, New YorkThis 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 Community Letter and FAQ for more information.
Contact the study coordinator at
224-303-0701 or medinfo@jaguargenetherapy.com.This study has 2 locations:
Chicago, Illinois, United States
Not yet recruiting
Rush UniversityContact: Aimee Puz
630-442-8232 aimee_f_puz@rush.edu
Contact: Elizabeth B Kravis, MD, PhDNYC, New York, United States
RECRUITING
Seaver Autism Center at Mount SinaiContact: Abby Siegel
212-241-3072 abigail.siegel@mssm.edu
Contact: Alex Kolevzon, MD -
An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001)
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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Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome
Study Type: Interventional
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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A Controlled Trial of Growth Hormone in PMS and Idiopathic Autism
Study 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.
Completed Clinical Research studies
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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.
Completed Clinical Trials
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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.
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?