Clinical
Trials
Participate in Research
Research is our best hope for advancing treatments and eventually finding a cure for Phelan-McDermid syndrome. CureSHANK supports important research being conducted by scientists and doctors, and we encourage families to participate in this process as well.
Patient and caregiver can participate in research by sharing information so that researchers can understand how shankopathies affect individuals and their caregivers. By volunteering for clinical studies or trials we can learn how new treatments affect patients.
Clinical studies seek to answer questions such as:
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Does this investigational drug work?
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Does it work better than another medicine already available?
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Does it cause any side effects?
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Are there any other benefits that could improve patient quality of life?
The following list shows the current clinical studies and trials with links to more information. Check back often, as new trials will be added frequently. To learn more about each trial and study, click on its name.
recruiting
Study Type: Observational
Qualification: Caregivers over age 18 of individuals with Phelan-McDermid syndrome
Location(s): Rochester, NY (no travel required)
Summary: The purpose of this study is to develop and validate a disease-specific, observer-reported outcomemeasure for clinical trials of patients with the following Neurodevelopmental Disorders (NDDs): RAI1, SCN2A and SHANK3 deficiencies. The study is being conducted in multiple phases. We are contacting you regarding Phase 1, which involves interviews with caregivers of patients with RAI1, SCN2A and SHANK3 deficiencies. We estimate that approximately 75 caregivers, ages 18 and up, who care for an individual with NDDs will take part in Phase 1.
Contact:
Spencer Rosero, BS: spencer.rosero@chet.rochester.edu
Anika Varma, BS: anika.varma@chet.rochester.edu
Shaweta Khosa, MD: shaweta.khosa@chet.rochester.edu
recruiting
Study Type: Interventional
Age Range: 3-12 years old
Location(s): Chicago, Boston, Houston
Summary: The 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.
recruiting
Study Type: Interventional
Age Range: 2-12 years old
Location(s): New York, NY
Summary: This 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.
recruiting
Study Type: Observational
Age Range: 18 months and older
Location(s): Stanford, CA; Chicago; Bethesda, Maryland; Boston; New York, NY
Summary: The purpose of this study is to comprehensively characterize 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.
completed
Study Type: Interventional
Age Range: 2-12 years old
Location(s): New York, NY
Summary: This 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.
completed
Study Type: Interventional
Age Range: 5-17 years old
Location(s): New York, NY
Summary: This 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.
completed
Study Type: Observational
Age Range: 1-21 years old
Location(s): Little Rock, AR
Summary: The 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).
enrolling by invitation
Study Type: Interventional
Age Range: 2-40 years old
Location(s): Messina, Italy
Summary: This 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.
completed
Study Name: AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy
Study Type: Interventional
Age Range: 12-45 years old
Location(s): Houston, TX; New York, NY
Summary: The 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.
completed
Study Name: Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Study Type: Observational
Age Range: 22 years and older
Location(s): Stanford, CA; Chicago, IL; Bethesda, MD; Boston, MA; New York, NY; Dallas, TX
Summary: The 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
Study Type: Interventional
Age Range: 1-5 years old
Location(s): Wuxi, Jiangsu, China
Summary: In 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.
Not Yet Recruiting
Study Type: Interventional
Age Range: 7-18 years old
Location(s): Paris, France
Summary: There 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.
completed
Study Name: Parent-Infant Inter(X)Action Intervention (PIXI)
Study Type: Interventional
Age Range: 12-99 years old
Location(s): Research Triangle Park, NC
Summary: The 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.