Participate in Research

Why would I want to participate in a clinical trial?

You or your child may wish to participate in a clinical trial for a variety of reasons. Researchers cannot discover new treatments without your help. It can be a rewarding and satisfying experience, as well an opportunity for you to contribute to the development of innovative, “cutting-edge” medical treatments. You could be part of a process that is critical in the development of medications. All medications must go through this process to become FDA approved. These studies are performed to determine how well the medication works or how long its effects can last.

You will gain unique access to experts in a particular disorder, especially in rare neurological disorders. Consulting physicians who are affiliated with a particular study will provide you with an opportunity to ask questions and discuss either your, or your child’s disorder. You will be able to ask detailed questions, free of charge.

The following research studies are recruiting participants. If you are interested in participating in a study and a contact name is not listed, please call the Foundation at 800.753.2357 for information.

Association between brain MRI findings and behavior in clinically diagnosed patients with CdLS

This study will investigate central nervous system findings on brain MRIs and compare them to behavioral aspects (such as aggression, mood disorders, self-injury, sleep disturbances) of patients with CdLS. The study will consist of parents answering a behavioral questionnaire (via phone or face to face) and signing a release for us to obtain a copy of previously obtained brain MRI scans and medical records.  Medical history and physical exam findings will also be compared to findings on MRI. Similar studies have been carried out in other developmental syndromes including Down syndrome and Fragile X syndrome. If characteristic trends can be found in CdLS, specific medical recommendations may be able to be made, preventative measures taken, and complications avoided, or, at the least, prospective information given to families.  

If you or your child is interested in participating, please email cdlsmri@gmail.com for more information. Your participation would be greatly appreciated.

Principal Investigator: Antonie D. Kline, M.D., Director of Pediatric Genetics, Greater Baltimore Medical Center and Medical Director of the Cornelia de Lange Syndrome Foundation

Probing the role of chromosome architecture in the pathophysiology of Cornelia de Lange Syndrome (CdLS)

Principal Investigator: Suhas Rao, Stanford

This project will address this basic gap in knowledge of how members of the cohesin complex regulate genome folding and cellular function and will map how 3D genome topology is dysregulated in patients affected by CdLS. The study will be the first to systematically and comprehensively examine the role of the spatial organization of the genome in the pathophysiology of CdLS.

N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome (CdLS)

Principal Investigator: Sarah (Noon) Raible, Children’s Hospital of Philadelphia

This project focuses on a pilot clinical trial for individuals with CdLS that will help advance therapeutic options for repetitive and self-injurious behaviors, to improve the health and quality of life for people with CdLS.

Somatic Mosaicism in Cornelia de Lange Syndrome

Principal Investigator: Kristin Baranano, John Hopkins Medical Center

This study aims to further investigate the role of somatic mosaicism in CdLS and determine its prevalence. The ultimate goal is to use information gained from this study to help develop guidelines for a comprehensive testing strategy that is efficient and effective in obtaining molecular confirmation of a CdLS diagnosis, thus allowing for a timelier diagnosis with early intervention to better optimize outcomes.

Phenotypic evaluation of patients with SMC1A mutations and intractable epilepsy

Principal Investigator: Gholson J. Lyon, Cold Spring Harbor Lab

This study explores the question of whether there is a distinct syndrome associated with SMC1A mutations and intractable epilepsy. Thorough phenotypic analysis will help better delineate the spectrum of CdLS and identify issues specific to this group of patients, which may lead to insight as to appropriate medications or therapies.

Genetic analysis of a new Cornelia de Lange-like Syndrome (CdLS) involving TAF1

This study explores a recently discovered X-linked intellectual disability syndrome associated with sequence variants in TAF1 (which the researchers are currently calling TAF1 Syndrome). Finding shared and non-shared transcriptional signatures between the various conditions will further uncover basic mechanistic insights into disease formation, thus setting the stage for potential treatment developments in the future.

Sleep Patterns in People with CdLS

Stacy Ishman and Angela Duggins, Cincinnati Children’s Hospital Medical CenterScope

You are invited to take part in a research study. The purpose of this study is to characterize sleep patterns in people with Cornelia de Lange Syndrome (CdLS). You will be asked to answer a number of questions regarding your child with CdLS and their typical sleep patterns.

If you agree to participate; please go to the following link to complete the survey.  Complete the CdLS Sleep Assessment Survey 

For additional information or if you have a question, please contact: Angie Duggins at Angie.Duggins@cchmc.org.

Speech, Language and Feeding Issues found in Individuals with CdLS

Dr. Cheri Carrico is conducting a study of the speech, language and feeding issues found in individuals with CdLS.  She is looking for any families that would be willing to complete a questionnaire and submit photos of their family member’s face and hands to participate in a research study.  Participation in this study will assist her in further identifying the characteristics associated with the speech, language and feeding concerns of individuals with CdLS and in providing appropriate recommendations for treatment.

If you complete the questionnaire, Dr. Carrico would be happy to respond to questions that you might have about feeding, speech, or language. Please attach a note to the front of the questionnaire letting her know your questions and concerns, if you have any you would like her to address.

Please feel free to contact Dr. Carrico to sign up for the study and if you have any questions at Dr. Cheri S. Carrico, Speech-Language-Hearing Clinic, Elmhurst College, 190 Prospect Ave., Elmhurst, IL 60126, USA; or at (630) 617-3196; or at cheric@elmhurst.edu.

National CdLS Registry

The CdLS Foundation has established a CdLS Registry at the Coordination of Rare Diseases at Sanford (CoRDS). Patient registries are designed to collect, store and curate data on individuals to be used for a specified purpose. They can be tools to establish natural history studies, establish prevalence, and connect patients with researchers who study their conditions

The CoRDS registry specifically houses basic contact and clinical information on any individual who chooses to enroll and who has been diagnosed with a rare condition.

For those of you interested in participating in this registry, go to CoRDS to begin the process. Paper surveys are available but you can also enroll online.

Register Now 

Once the data is entered by CoRDS, you will receive a username/password and be able to update the registry online annually, choose to participate in approved research studies, and even see how your child compares to others in the registry.

What’s the benefit of participating? Simply put, advancing the understanding of the syndrome and encouraging further research into its causes. Researchers with appropriate approval may apply to access an anonymous data set in order to determine if any individuals in the registry are eligible for their research studies. The information in the registry may even peak the researchers interest in CdLS or a certain aspect of the syndrome.

Once entered into the registry, you have control over who can and cannot see the information.
This service is provided at no charge to you or the CdLS Foundation since CoRDS is funded by an endowment.

Have questions? View a PowerPoint of information about CoRDS and the registry.