*last updated on 11/06/24*
Home-Based Gastrointestinal Transit Test among People with Phelan-McDermid Syndrome
Research team: Led by University of Miami, Dr. Julia Dallman, in partnership with Kennedy Krieger Institute, Indiana University, and Atrium Health.
Type of Study: Virtual
Time commitment: The time commitment is a 60-minute virtual interview being conducted during the weeks of November 11th & November 18th, 2024.
Compensation: $50
Rationale: Gastrointestinal (GI) symptoms are common and negatively impact quality of life among people with Phelan-McDermid Syndrome (PMS). 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 PMS. We have developed an alternative objective measure of GI transit: muffins with blue dye and a mobile app allow caregivers to track GI transit time at home. This phase of the study involves using the redesigned mobile app symptom tracker and providing feedback to the study team on usability. A future phase of the study will involve testing transit time.
Eligibility:
- Caregivers of people with Phelan-McDermid syndrome
- Caregiver must be 18 years or older
Enrollment: If you are interested in participating please contact study PI Dr. Barbara Millet at uxlab@miami.edu and add ‘blue transit times’ to the subject line.
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/.
Web Intervention For Parents of Youth with Genetic Syndromes (WINGS) Study
Research team: Autism Assessment, Research, Treatment and Services (AARTS) Center
Type of Study: Virtual
Time commitment: The time commitment is 60 minute weekly therapy sessions and home-based practice activities for up to 7 months. Monthly meetings will also be required.
Compensation: Up to $165 for participation
Rationale: This study aims to test two telehealth interventions designed to help parents of children aged 2-12 with genetic syndromes and intellectual disabilities gain strategies to manage challenging behaviors.
Eligibility:
- Participants must be a parent of a 2-12 year old child with a genetic syndrome and associated moderate to profound Intellectual and Developmental Disabilities (IDD).
Enrollment: If interested in participating, please visit the link below to fill out the interest survey.
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
Phelan-McDermid Syndrome Neuropsychiatric Illness Study
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.
Enrollment: For additional information regarding this study, please contact Milena Andzelm at PMSimmunestudy@childrens.harvard.edu
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 $400 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
Development of Caregiver-Reported Outcome Measure for Neurodevelopmental Disorders (NDD)
Research team: Chad Heatwole, MD, MS-CI, University of Rochester, Rochester, NY, Center for Health + Technology (CHeT); Outcomes Division
Type of Study: Virtual Survey
Time commitment: Approximately 20 minutes
Compensation: None
Rationale: This study aims to investigate and identify the symptoms that have the greatest impact on the lives of individuals with a neurodevelopmental disorder (NDD). This will help guide future research and therapeutic development for individuals with an NDD. The study involves completing demographic questions on you and the individual with an NDD for whom you provide care, and completing a symptom survey on NDD symptoms for the individual for whom you provide care.
Eligibility:
- Be a caregiver for an individual who is diagnosed with Phelan-McDermid syndrome.
Enrollment: If interested in participating, please use this survey link: https://redcap.urmc.rochester.edu/redcap/surveys/?s=FKWWP7KJD8799ADR
If you would prefer to complete the survey on paper or over the phone, please contact one of the study coordinators. Any other questions or comments can be directed to one of the study coordinators:
- Jennifer Weinstein, email jennifer.weinstein@chet.rochester.edu
- Charlotte Engebrecht, email charlotte.engebrecht@chet.rochester.edu
GEODE (Gathering Evidence for Optimizing Decisions) Study
Research team: Boston University’s Center for Autism Research Excellence, Dr. Ben Scott
Type of Study: Virtual
Time commitment: 20-40 minutes
Compensation: $25 per session (Amazon gift card)
Rationale: This study aims to investigate decision-making and sensory perception in teenagers and their siblings, both with and without Phelan-McDermid syndrome. Participants will take part in a fun video game played over Zoom.
Eligibility:
- 11-21 years old diagnosed with Phelan-McDermid syndrome
- Able to use a touchscreen device or mouse
- Do not have a seizure disorder or history of seizures that could be triggered by flashes
Enrollment: If interested in enrolling, or for more information, contact: Vanessa Torres: (617)358-6713 or via email at vtorresl@bu.edu
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.
Project WellCAST
Research team: Led by Dr. Bridgette Kelleher, Purdue University
Type of Study: Virtual
Time commitment: 24-week period, which includes 8 weeks of downtime. This period involves completing a 12-week support program, followed by 16 weeks of Snapshot Surveys conducted three times daily to collect momentary data. Additionally, five sets of an hour-long survey will be conducted to collect clinical feelings and symptoms over the 24-week trial period.
Participants can expect to be actively engaged for 1-3 hours per week.
Compensation: Participants will be compensated up to $100 for completing real-time smartphone surveys and forms.
Rationale: Caregivers of children with neurogenetic syndromes often experience high levels of stress. It can be challenging to find healthcare providers who are knowledgeable about your loved one’s condition, and explaining the caregiver experience to others who are unfamiliar with the syndrome community can be difficult. The WellCAST Project is a research study aiming to address these challenges by identifying the most effective ways to provide evidence-based support to caregivers of individuals with rare disorders virtually. The support programs offered may include self-guided resources, live individual or group therapy, and peer coaching with another caregiver of someone with a rare syndrome.
Eligibility:
- Legal guardians of 2-35 year-olds with a documented rare neurogenetic syndrome
- Live in the US and speak English
Enrollment: If interested in participating, please email wellcast@purdue.edu or visit https://kelleherlab.weebly.com/project-wellcast.html for more information.