Clinical Study of Cannabidiol in Children and Adolescents With Fragile X Syndrome (RECONNECT)

PI: Lisa Prock, MD, MPH  |  Clinical Drug Trial — NCT04977986 >

A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP-9001 in Participants With Duchenne Muscular Dystrophy (DMD) (EMBARK)

PI: Partha Ghosh, MD  |  Clinical Drug Trial — NCT05096221 >
Patient Advocacy Group Partners: Muscular Dystrophy Association, Parent Project Muscular Dystrophy

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

PI: Mustafa Sahin, MD, PhD  |  Natural History Study — NCT02461420 >
Patient Advocacy Group Partner: Phelan McDermid Syndrome Foundation

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

PI: Mustafa Sahin, MD, PhD  |  Natural History Study — NCT02461446 >
Patient Advocacy Group Partners: PTEN Foundation, PTEN Research

Neurogene- A Phase 1/2, Open-Label Clinical Study to Evaluate Safety, Tolerability, and Efficacy of NGN-401 in Pediatric Subjects with Rett Syndrome

PI: David Lieberman, MD, PhD  |  Interventional Therapeutic Trial — NCT05898620
Patient Advocacy Group Partner: NEUROGENE INC

Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy (DEVOTE)

PI: Basil Darras, MD  |  Clinical Drug Trial — NCT04089566 >
Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

A Study to Investigate the Safety and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Ambulatory Children With Spinal Muscular Atrophy

PI: Basil Darras, MD  |  Clinical Drug Trial — NCT05115110 >
Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

PI: Anna Pinto, MD, PhD  |  Natural History Study — NCT04717427 >
Patient Advocacy Group Partner: Sturge-Weber Foundation

Basimglurant in Children and Adolescents With TSC

PI: Mustafa Sahin MD, PhD  |  Clinical Drug Trial — NCT05059327 >
Patient Advocacy Group Partner: TSC Alliance

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

PI: Mustafa Sahin MD, PhD  |  Natural History Study — NCT02461459 >
Patient Advocacy Group Partner: TSC Alliance

Trial to Investigate the Safety and Efficacy of Cannabidiol Oral Solution (GWP42003-P; CBD-OS) in Children and Adolescents With Autism Spectrum Disorder

PI: Lisa Prock, MD, MPH  |  Clinical Drug Trial — NCT04745026 >

Congenital Heart Disease and Autism Spectrum Disorder

PI: Maya Chopra, MBBS, FRACP
In this highly collaborative study which is part of the Children’s Rare Disease Cohort (CRDC) Initiative, trio whole exome / genome sequencing will be offered to individuals with a dual diagnosis of congenital heart disease (CHD) and autism spectrum disorder (ASD). With the expertise of co-investigators from the Department of Cardiology, Developmental Medicine and Clinical Genetics, we aim to better understand the genomic intersection of these dual diagnoses. The insights from this study may uncover new genes, mechanisms and future therapeutic options for children with these disorders and have important implications for diagnostic and prognostic evaluations.

International CDKL5 Clinical Research Network’s Clinical Trial Readiness Study

PI: Heather Olson, MD, MS
Natural History Study — The ICCRN is a collaborative network of researchers in the US and Australia that specialize in CDKL5 Deficiency Disorder (CDD). The goal of this study is to develop appropriate tools to facilitate future clinical trials in CDD, known as clinical outcome measures (COMs). Validated, standardized COMs are necessary to accurately and reproducibly track meaningful changes in clinical trials and can also inform clinical care. Suitable COMs and biomarkers do not currently exist for CDD, and this study will ensure that future clinical trials for CDD more adequately capture the impact of new therapeutics by identifying meaningful changes in the symptoms and quality of life of individuals with CDD.

Patient Advocacy Group Partner: International Foundation for CDKL5 Research (IFCR)

Cerebral Palsy Sequencing Initiative

PI: Siddharth Srivastava MD
Cross Sectional — Cerebral Palsy (CP) Sequencing is a Children’s Rare Disease Cohort aimed at discovering underlying causes of CP and related disorders by performing whole exome and whole genome sequencing on patients of all ages with associated diagnoses. This study also looks at the relationship between patients’ genotypes (molecular genetics) and phenotypes (physical presentation) by performing in-clinic phenotyping in the BCH Cerebral Palsy Clinic to better understand CP, a condition with a wide spectrum of clinical presentations.

Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

PI: Maya Chopra, MBBS, FRACP

Longitudinal Natural History Study —In this study, we aim to learn more about the range of symptoms experienced by individuals with Chopra-Amiel-Gordon Syndrome (CAGS), a genetic condition caused by ANKRD17 gene variations. This effort will lead to a better understanding of learning and behavioral difficulties, and other health concerns in children and adults with CAGS. Additionally, we aim to improve the diagnostic approach to this disorder by enrolling individuals with suspected CAGS. Participants complete three annual visits, which can be remote or in-person. English speaking participants can also choose to complete comprehensive neurobehavioral research testing. Participants can also optionally provide blood and/or skin samples, share photographs, and complete research EEGs. We hope this information will lead to a better understanding of the longitudinal trajectory of this condition, how symptoms relate to the type of ANKRD17 gene change, and establish endpoints for future clinical trials.

Investigating the Natural History of Kleefstra Syndrome

PI: Siddharth Srivastava MD
Natural History — An international collaborative group led by Dr. Tjitske Kleefstra is studying individuals’ ages 13 years and older diagnosed with Kleefstra Syndrome (EHMT1 deletion or pathogenic variant). The goals of this research are to study the natural history of Kleefstra Syndrome and determine best practices for treating the mental health challenges that can be associated with Kleefstra Syndrome.

Patient Advocacy Partner: IDefine