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Other Developmental Disorders | Overview


CDKL5 Clinic Study

The purpose of the CDKL5 Clinic Study is to improve our understanding of the neurologic and non-neurologic aspects of the neurodevelopmental disorder associated with mutations in the CDKL5 gene and how this disorder evolves over time. 
Our aim is to combine the database of information collected at BCH with databases from the other CDKL5 Centers for Excellence in order to compile as much information as possible about the disorder and evaluate for genotype-phenotype correlations. This platform of information is essential to the development of clinical treatment trials going forward.

Who Can Participate?
Participants in the CDKL5 Clinic Study will be offered enrollment through our clinic at Boston Children’s Hospital. Determination of CDKL5 mutation status is required in order to be eligible for enrollment, and we can assist with interpretation of genetic test results in clinic.

Participation Details
We will gather retrospective and prospective medical information through medical record review, family report, physical examinations, and clinical data. All information will be collected during clinic visits, and supplemental data from your home medical team will be collected if appropriate. Copies of MRI and EEG data will be requested if done elsewhere. Data will be collected on an ongoing basis for patients who are seen regularly in clinic, and for all enrolled subjects, we will ask for updates on at least a yearly basis.

Research Contact
The CDKL5 research studies being offered at Boston Children’s Hospital are optional for all patients seen in the CDKL5 clinic and are not required for clinical care. If you have questions about participating in our CDKL5 research studies, please contact the study coordinators at 617-355-5230 or by email at Additional translational studies may be available soon. Please ask our team.

Investigating the Cellular Basis of Neurological Disorders

This study aims to better understand the genetic, biological, and other factors that may contribute to the development of neurological conditions and that may explain the broad health outcomes of such disorders.

Who Can Participate?
All patients with a neurological disorder are eligible to participate, as well as family members of the affected individual.

Participation Details
Participants are asked to provide either a blood or skin sample that will be used to create iPSC cell lines, and to isolate DNA and RNA to examine gene expression. Enrolling in the study also allows researchers to view participant’s medical records and health information.

Natural History of Sturge-Weber Syndrome

The goal of this study is to develop a database of information from individuals with Sturge-Weber syndrome (SWS). We hope that from the information collected in the database, researchers can gain a better understanding of the development of the disease, improve the clinical care of individuals with SWS, and direct future research studies. Individuals with a possible or definite diagnosis of SWS who are seen in the neurology clinic are eligible to participate in this study.

MRI Biomarkers in Patients with Sturge Weber Syndrome

This study aims to learn more about brain changes that take place in individuals with Sturge-Weber syndrome (SWS). The study uses imaging techniques, such as MRI scans, to understand how to identify early signs of SWS. Early brain imaging results have the potential to provide a more accurate prognosis as well as lead to a better understanding of neurological symptoms and responses to therapies. Individuals between the ages of 1 and 4 years old (inclusive) with a port-wine stain and/or SWS seen in the neurology clinic are eligible to participate in this study.

Sensory Event Related Potentials in Children with Tuberous Sclerosis

We are currently conducting a clinical research study at Boston Children’s Hospital for individuals between the ages of 6 and 14 years with a diagnosis of tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD). The goal of this study is to help researchers gain a better understanding of the association of EEG signals and with TSC and ASD for the development biomarkers that can be used for the evaluation of novel treatments.

Who Can Participate?
Eligible participants must either have a diagnosis of TSC (and also Autism Spectrum Disorder preferably) and be between the ages of 6 and 14, or be typically developing and between the ages of 6 and 14.

Participation Details
Participating in this study involves only one visit to the hospital. The study visit will involve an EEG session that lasts approximately two hours.

Tuberous Sclerosis Complex (TSC) Natural History Database Project

The aim of the project is to establish a central repository of information about a large number of individuals with TSC during the course of their lifetime. Boston Children’s Hospital is one of many hospitals across the country that is part of the Tuberous Sclerosis Alliance.

Who Can Participate?
The only eligibility requirement for this study is a diagnosis of Tuberous Sclerosis Complex.

Participation Details
Participating in this study allows researchers to pull data from participant’s medical records and enter it in a database. No identifying information will be recorded in the database.