Natural History Studies
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What is a natural history study?
A natural history study is a carefully designed research study that follows a group of people over time who have a specific medical condition or disease. Researchers working on these studies collect specific health information and biological samples in order to understand how the disease develops and how to treat it.
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Why should a patient enroll?
Given the small number of patients affected by leukodystrophies, in order to develop treatments and better understand these disorders, researchers create natural history studies to study the progression of a disease. Even though natural history studies do not involve receiving a new treatment, it does give you the chance to work with leading researchers (at no cost to you) to better understand the disease and learn how to manage the condition more effectively. Most importantly, natural history studies are a crucial first step for clinical trials and, one day, curative, therapies. If there is a natural history study for you or your loved one’s disease, we hope you will consider supporting this research.
Natural History Studies for Leukodystrophy Patients
Aicardi-Goutières Syndrome (AGS)
This study gathers natural history information about the disease progression of Aicardi-Goutières Syndrome (AGS) through collection of medical records and a series of research blood samples. This study is open to patients worldwide and does not require a visit to the Children’s Hospital of Philadelphia. Participants who are able to visit CHOP will be invited to complete a set of optional physical and occupational therapy assessments. The cost of these assessments will be covered by the study team.
Participation in the study will also allow the study team to share important research updates, invitations to upcoming AGS Family Conferences, and clinical trial announcements.
If you are interested in learning more about and/or enrolling in the study, we kindly invite you to submit our online Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
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Albee Messing and Amy Waldman present updates to Alexander diesease research and treatment.
H-ABC and TUBB4A-related Leukodystrophy
This study gathers natural history information about the disease progression of H-ABC and -related Leukodystrophy through collection of medical records and a research blood sample. This study is open to patients worldwide and does not require a visit to the Children’s Hospital of Philadelphia. Participants who are able to visit CHOP will be invited to complete a set of optional physical and occupational therapy assessments. The cost of these assessments will be covered by the study team.
Participation in the study will also allow the study team to share important research updates, invitations to upcoming H-ABC/TUBB4A Family Conferences, and clinical trial announcements.
If you are interested in learning more about and/or enrolling in the study, we kindly invite you to submit our online Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
Metachromatic Leukodystrophy (MLD)
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This study gathers natural history information about the disease progression of metachromatic leukodystrophy (MLD) through collection of medical records and a research blood sample. This study is open to patients worldwide and does not require a visit to the Children’s Hospital of Philadelphia. Participants who are able to visit CHOP will be invited to complete a set of optional physical and occupational therapy assessments. The cost of these assessments will be covered by the study team.
This study is open to patients worldwide. In addition to the above, participation will also allow the study team to share important research updates, invitations to upcoming MLD Family Conferences, and clinical trial announcements.
If you are interested in learning more about and/or enrolling in the study, we kindly invite you to submit our online Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
Multiple Sulfatase Deficiency (MSD)
This study gathers natural history information about the disease progression of multiple sulfatase deficiency (MSD) through collection of medical records with research urine and blood samples. This study is open to patients worldwide and does not require a visit to the Children’s Hospital of Philadelphia. Participants who are able to visit CHOP will be invited to complete a set of optional physical and occupational therapy assessments. The cost of these assessments will be covered by the study team.
This study is open to patients worldwide. If you are interested in learning more about and/or enrolling in the study, we invite you to submit our Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
Pelizaeus-Merzbacher Disease (PMD)
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This study gathers natural history information about the disease progression of Pelizaeus-Merzbacher Disease (PMD) through collection of medical records. This study is open to patients worldwide and does not require an in-person visit to the Children’s Hospital of Philadelphia.
Participation in the study will also allow the study team to share important research updates, invitations to upcoming PMD Family Conferences, and clinical trial announcements.If you are interested in learning more about and/or enrolling in the study, we kindly invite you to submit our online Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
Pol III-related Leukodystrophies (4H Leukodystrophy)
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This study, conducted in collaboration with Dr. Geneviève Bernard of the McGill University Health Centre (MUHC), gathers natural history information about the disease progression of Pol III-related leukodystrophies, also known to as 4H leukodystrophy. Participation in the study involves sharing medical records and a research blood sample for analysis by the research team. The study is open to patients worldwide and does not require a visit to the Children’s Hospital of Philadelphia. Participants who are able to visit CHOP will be invited to complete a set of optional physical and occupational therapy assessments. The cost of these assessments will be covered by the study team.
Participation in the study will also allow the study team to share important research updates, invitations to upcoming family conferences, and clinical trial announcements. If you are interested in learning more about and/or enrolling in the study, we kindly invite you to submit the Online Referral Survey at https://redcap.chop.edu/surveys/?s=DLDXKNTX4N.
A study coordinator will respond to new survey submissions within five business days to provide additional information and discuss the next steps.
Online Registry for Vanishing White Matter now available
The Center for Childhood White Matter Disorders at the VU University Medical Center (VUmc) in Amsterdam, The Netherlands, has developed an online Registry for patients with Vanishing White Matter (VWM).
Aim
The aim of the Registry is to collect as much insight in the disease course as possible, regarding both clinical features and MRI. This database will play an important role in developing treatment strategies and making decisions regarding therapeutic trials.
Who can take part in the Registry?
Patients of all ages with genetically proven Vanishing White Matter.
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What does taking part in the Registry mean?
When a patient is signed up for the Registry, we will first ask to sign informed consent. Subsequently, we will collect information on the clinical situation, MRI(s) and genetic testing results. In addition, we will send an email to provide access to the Registry, where questionnaires and a score form are available to be filled in. The frequency of the invites to fill out questionnaires and score formsdepends on the age, and will be: 4 times a year (age 0-4 years), 2 times a year (4-8 years) or once a year (8 years and older). Per invite we will senda maximum of 3 questionnaires and 3 score forms, which will take 30 minutes in total to fill out. No additional hospital visits are necessary for the Registry. When an MRI is obtained for clinical purposes, we appreciate a copy.
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Investigators
Dr. Marjo S. van der Knaap, professor of Pediatric Neurology, Director of the Center for Childhood White Matter Disorders
Dr. Renate J. Verbeek, pediatric neurologist
Menno D. Stellingwerff, research assistant
Register
You can sign up for the online Registry per email.
After receiving your message, we will send more detailed information about the Registry, so that you can decide to participate in the Registry.
We will provide consent forms that need to be signed and returned to us.
Register via: registerVWM@vumc.nl
Privacy
Privacy
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We use Castor EDC, an online, cloud-based Electronic Data Capture platform, approved by external auditors, to collect longitudinal data of VWM patients. Castor is secured according to the most recent standards in order to protect the data and complies with all applicable laws and regulations (Good Clinical Practice (GCP), 21 CFR Part 11, EU Annex 11, General Data Protection Regulation (GDPR), HIPAA (US) ISO 9001 and ISO 27001).
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