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.

Invitation to take part in CdLS research: BEOND

We would like to invite parents and caregivers of children and adults with Cornelia de Lange syndrome to take part in our survey. The Behavioural and Emotional Outcomes in Neurodevelopmental Disorders study (BEOND) study is a large-scale survey being run by the Cerebra Network for Neurodevelopmental Disorders (www.cerebranetwork.com). You will be asked to respond to a variety of questions – through your answers we will learn more about behaviour, wellbeing, emotion, cognition, and health in children and adults with Cornelia de Lange syndrome, as well as understanding more about access to support, service use, and family wellbeing.

Those families who complete the survey will receive individualised feedback reports to put that information back into your hands, as well as being entered into a prize draw. The person you care for with Cornelia de Lange syndrome should be at least one years old for you to take part in the study. To complete the survey online, find out more, and/or to request a postal pack to be sent to you, please visit www.cerebranetwork.com/beond-cdls.

Does your child with CdLS display problem behavior?

Some children with Cornelia de Lange syndrome engage in behaviors that are harmful to themselves (e.g., head banging, head hitting, self-biting), are harmful to others (e.g., hitting, kicking), or are harmful to the environment (e.g., ripping/breaking/tearing things, banging on
surfaces, kicking objects). Sometimes these problem behaviors negatively impact children or their families to the point that treatment is needed.

Children with CdLS, who are between the ages of 3 to 15 years old, and who exhibit these types of problem behaviors are needed for a research study. Parents will be asked to complete questionnaires about their child’s behavior, and behavioral assessment and treatment of the problem behaviors will be provided at no charge to the family. Families will be asked to attend 2 full-day clinic visits and 1 half-day clinic visit at Kennedy Krieger Institute. Families will also participate in phone follow-up calls for 3 months after treatment. Families will receive $150 for their participation. For more information, contact: John Michael Falligant, Ph.D. at 443-923-9512.

Lower Limb Study with Children’s Hospital of Philadelphia (CHOP)

The purpose of this study is to characterize lower limb differences in individuals with Cornelia de Lange syndrome (CdLS). While upper limbs tend to be more involved, there are a handful of individuals with significant lower limb differences. Thus, we are looking to enroll individuals with a diagnosis of CdLS and more involved or significant lower limb differences (other than 2-3 toe syndactyly, short 4th metatarsal and small feet). Examples of significant lower limb differences observed in the literature include split feet, absence of tibia or fibula, thin or short long bones, club foot, missing toes, or other toe syndactyly. Please note, this survey may take longer than 10-15 minutes to complete.

If you have any questions regarding this project and survey, please contact Sarah Raible, MS, CGC raibles@chop.edu and Kaley Arnold, BS arnoldk1@chop.edu.

Take survey now

Association between brain MRI findings and clinically aspects of individuals with CdLS

This study is investigating central nervous system findings on brain MRIs and comparing them to clinical aspects of individuals with CdLS. Findings on MRIs of the brain in individuals with CdLS over the age of 2 years will be assessed by neuroradiologists who will be unaware of any clinical aspects. These will then be correlated with the clinical findings of the individuals, including medical and internal organ system complications, developmental and intellectual assessments, and behavioral findings, and also with molecular genetic findings if available. 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 your child has had a brain MRI over the age of 2 years, and your child will be or has been seen by Dr. Kline at her hospital or at a national or regional meeting, please notify Bonnie Royster at director@CdLSusa.org or 800.753.2357.

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

CdLS and Related Disorders Research at Massachusetts General Hospital

Scientists at Massachusetts General Hospital are looking for research participants with Cornelia de Lange syndrome and/or genetic changes in the following genes: ANKRD11, BRD4, CTCF, ESCO1, ESCO2, ESPL1, HDAC8, LEMD2, LMNB1, MAU2, NAA10, NIPBL, OTUD5, PDS5A, PDS5B, RAD21 (SCC1), REC8, SATB2, SGO1, SMC1A, SMC3, STAG1, STAG2, STAG3, WAPL, and YY1. If you or your family member has Cornelia de Lange syndrome and/or a genetic change (variant, mutation, deletion, or duplication) in one of these genes, and you would like to learn more, contact pmboone@partners.org or call +1 (314) 540-2188.

Cornelia de Lange Syndrome and Related Disorders: From Gene to Disease, A Boston Children’s Hospital Study

Scientists at Boston Children’s Hospital are looking for research participants with Cornelia de Lange syndrome and/or genetic changes in the following genes: ANKRD11, BRD4, CTCF, ESCO1, ESCO2, ESPL1, HDAC8, LEMD2, LMNB1, MAU2, NAA10, NIPBL, OTUD5, PDS5A, PDS5B, RAD21 (SCC1), REC8, SATB2, SGO1, SMC1A, SMC3, STAG1, STAG2, STAG3, WAPL, and YY1. If you or your family member has Cornelia de Lange syndrome and/or a genetic change (variant, mutation, deletion, or duplication) in one of these genes, and you would like to learn more, contact study coordinator Kamli Faour at emeline.kao@childrens.harvard.edu or call +1 (617) 919-7632

Natural history and aging study of CdLS

This study is actively investigating clinical aspects of Cornelia de Lange syndrome (CdLS), looking at different ages over time. Within Cornelia de Lange syndrome there is a wide spectrum of severity, and overall the natural history, progression and aging aspects have not been well studied. Dr. Kline and medical professionals on her team at the Greater Baltimore Medical Center (GBMC) have been actively seeing and evaluating individuals with Cornelia de Lange syndrome since 2002, primarily focusing on adolescents and adults. Despite an initial publication from 2007, much remains to be evaluated. Medical records and clinical data on children and adults with CdLS are reviewed with parental consent, the children and adults are often evaluated in person with a detailed physical examination and recommendations generated for the family and their medical providers. Some individuals will be able to be evaluated more than once.

This study is being carried out at GBMC, with the active participation of the CdLS Foundation as well. The goals of this project are to study aging and natural history of this disorder by comparing trends, interventions and results, to evaluate parental/family coping mechanisms and successes, to establish standard medical therapeutic interventions, and to enable collaboration with other researchers in the Clinical Advisory Board of the Cornelia de Lange Syndrome Foundation. This study should be able to provide more clinical information to families involved in CdLS, as well as contribute to the world literature on CdLS. If interested in participating and being seen through this study, please contact Bonnie Royster at director@CdLSusa.org or 800.753.2357.

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

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

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.

Principal Investigator: Marco Grados, M.D., M.P.H., The Johns Hopkins Hospital mgrados1@jhmi.edu

Sleep Patterns in People with CdLS

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. CdLS Sleep Assessment Survey

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

Principal Investigators: Dr. David Smith and Angela Duggins, Cincinnati Children’s Hospital Medical CenterScope

Use of Augmentative and Alternative Communication Devices (AAC) in Children with Cornelia de Lange Syndrome (CdLS)

The purpose of this study is to survey parents/caregivers of children with CdLS age 2-18 years using an online tool to maintain confidentiality. Through this survey, we seek to understand the use of high tech AAC devices in children with the CdLS. If individuals are not using AAC devices, we seek to identify barriers to evaluation and use. If individuals are using AAC devices, we seek to identify how devices were accessed, which devices are used, and if communication was positively impacted.

Principal Investigator: Patti J. Bailey-Caudill, M.S. CCC-SLP, The Milton J. Dance Head & Neck Center, Greater Baltimore Medical Center, pcaudill@gbmc.org.

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.

Service delivery for selective mutism in adolescents and young adults with Cornelia de Lange Syndrome

The purpose of the study is to explore service delivery for assessment and treatment of adolescents and young adults, aged 12 to 25 years old, with diagnosed selective mutism in adolescents and young adults, aged 12 to 25 years old, with Cornelia de Lange Syndrome from the parents’ viewpoints.

Principal Investigator: Asmita Mistry, amistry@kean.edu or 908.737.5800