Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
About this Study
Since there are no assessment tools that are specifically designed for children and families with LSD, we will use questionnaires and evaluative measures that are commonly used to assess the development of infants, toddlers, and children. The developmental skills we will be evaluating will include mobility, communication, self-care, socialization, behavioral, and learning.
The assessment tools will include:
- Parent Health Questionnaire (PHQ): For adult caregivers and families. This gives us an overview of the child’s health and the family’s environment. In addition, measures a family’s need for different types of help and assistance.
- The Ages and Stages Questionnaire (ASQ): For children ages birth to 60 months.This is a series of questions that describes your child’s development in communication, gross motor, fine motor, problem solving, and personal-social skills.
- Warner Initial Developmental Evaluation of Adaptive and Functional Skills (WIDEA-FS): For children ages birth to 30 months. This is a series of questions that evaluates your child’s functioning during daily activities in movement, self-care, communication, and social cognition.
- Pediatric Evaluation of Disability Inventory Care Assistance (PEDI-CA): For children ages 31 to 71 months. This is a series of questions that evaluates your child’s level of self-care, mobility, and functioning in daily activities.
- Strengths and Difficulties Questionnaire (SDQ): For children ages 37 to 71 months. This is a series of questions to understand your child’s attention, behavior, and social interaction skills.
- Short Form 12 (SF12): For adult caregivers. This is a series of questions that measures adult physical and mental health.
- Family Life Impairment Scale (FLIS): Measures the impact of child’s disorder on the family’s routines.
Each of these tools will be used to measure different aspects of either you or your child’s life. For example, ASQ will be used for developmental skills in movement, manipulation, communication, and social initiatives; WIDEA-FS, PEDI-CA, and SDQ will be used to measure your child’s adaptive and social skills; SF12 will evaluate your physical and mental stress; and the PHQ and FLIS will measure family supports and participation in community activities.
A total of 70 children from across the United States will participate in this study. 5-10 of those children will be enrolled at the University of Chicago.
During this study, Dr. Msall, Dr. Waggoner and their research team will collect contact information from you, as well as information about your child’s health, development, behaviors, and adaptive skills. We will also ask you about your child’s educational outcomes and your family support network.
In order to assess your child’s developmental status and your family’s well-being, a member of the research team will conduct a structured telephone interview with you every six months from the time your child is 6 months old to when he is 66 months old (approximately 5 years of age). During the phone interview you will be asked to answer a list of questions regarding your child’s health, development, temperament or behaviors, and function. We will also ask about your family’s stress level and overall well-being.
You may choose to participate in each phone interview in the privacy of your own home. Apart from you and the trained professional who will be conducting the study, no third party will be listening in on the conversation. Your child will not be examined or be subject to questions at any part of this study. Due to the length of this research, it is highly unlikely that you’ll be speaking to the same person each time. Each interview session will last between 30-45 minutes.
If your child is found to have delays in development or functional milestones, recommendations will be made by the Developmental and Behavioral Pediatrician to your physician for appropriate follow-up care with early intervention or preschool special education services to address these findings.
You will be asked to participate in a phone interview every six months from the time your child is 6 months old to when he/she is 66 months old (approximately 5 years of age). This translates into 10 phone interviews throughout the duration of this study.
Dr. Msall may decide to take you off of the study without your consent if:
- You are unable to meet the requirements of the study;
- Your child’s medical condition changes
- If the study is stopped
There are minimal risks associated with the administration of the questionnaires used in this study. All have been used in children without disability. These questions are commonly used to measure function and development in children. You may experience discomfort in answering some of the questions and you may choose not to answer them. The structured interviews will occur with a trained developmental and behavioral professional. All measures will be taken to prevent the risk of loss of confidentiality.
Historically children with lysosomal storage disorders (LSD) have experienced declines in health, well being, and central nervous system integrity with worsening in their development, behavior, and ability to function. Scientific advances have allowed for treatments using enzyme replacement, hematopoietic stem cell transplantation, or interventions to decrease the severity of lysosomal storage diseases (LSD). Despite these advances, there are still barriers in assessing health, developmental and functional outcomes over time and across settings in the preschool years. One reason outcomes are not being assessed is due to the high cost of the required assessments and the difficulty in performing sequential neuropsychological testing in young children.
However, there are several strategies that can address difficulties in getting information about developmental, educational and family support outcomes.
- Taking advantage of validated questionnaires that have been used to document emerging motor, communicative, adaptive, social and behavioral skills in young children.
- Choosing instruments that are validated to capture functional status in essential activities using formats for specific populations as well as in survey methodologies.
- Building on regional centers of excellence in pediatric genetics and neurology, and establishing protocols to be used across regions of the country.
The LSD network is unique in that there is a nationwide system of health and developmental professionals committed to evaluating children with early onset LSD. If successful we intend to expand this program to other groups of children who have been identified on newborn screening or in early childhood to have inherited a large molecule metabolic disease that will require gene therapies, stem cell transplantation, or genetic interventions to lessen the severity of the disease.
The purpose of this study is to develop a phone-based observation system that will give us a reliable snap shot of the health, developmental, and functional outcomes of preschool children who have an early onset lysosomal storage disease (LSD).
Aims of this project are as follows:
- To develop a phone-based observation system for reporting health, developmental and functional outcomes of children who have early onset of lysosomal storage disease.
- To test the validity of the assessments and tools listed below as compared to standard LSD neuropsychological testing protocols specified by the Neurobehavioral Core or with psychoeducational assessments obtained through early intervention (EI) or preschool.
- To test the validity of the WIDEA-FS, and the PEDI-CA as compared to the Neurobehavioral core use of Vineland Adaptive Behavior Scales (VABS2) for children with LSD. We will calculate the correlation between WIDEA-FS, PEDI CA, and VABS2. The PEDI has been successfully used for evaluating children experiencing a wide range of motor disabilities as well as Pompe’s Disease.
- If areas of delay are identified, to make appropriate referrals for early intervention or preschool special education services, as well as community supports.
- To assess the impact of child’s current health and developmental status on family routines, caregiver health, and family supports.
To be eligible to participate, you must:
- Child diagnosed with a Lysosomal Storage Disease and who is between 1 and 84 months
- Child diagnosed with a Lysosomal Storage Disease older than 84 months of age and with developmental challenges so that their developmental age is less than a typical first grader without impairment.
You are not eligible to participate if:
- Are unwilling/unable to give informed consent, or sign the assent (if applicable) and parental consent
- Presence of other kidney disease
How to participate
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
Join the Contact Registry for:
Join the Contact Registry for other Lysosomal Storage Diseases