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Leukodystrophy and White Matter Testing Research
Learn more about Leukodystrophy and White Matter testing research at Children's National Medical Center below. Please note that for any clinical questions relating to the leukodystrophies, contact Adeline Vanderver, MD directly.
New Diagnostic Approaches in Leukodystrophy Protocol
Principal Investigator: Adeline Vanderver, MD
Please also see www.myelindisorders.org for more information.
Leukodystrophies have many causes, some known and some unknown. Many patients have rare forms of leukodystrophy for which no test exists. The purpose of this study is to better characterize patients with leukodystrophies from a clinical, molecular, and biochemical standpoint in order to establish new tests for use in diagnosing leukodystrophies. Participation in this study involves a physical examination, which, when possible will be conducted at Children’s National Medical Center by the study Principal Investigator. When travel is not possible, it may be possible for the participant’s local neurologist to collect key clinical data. In addition, this study requests that excess material be collected for this research study when diagnostic testing is being completed. Excess samples requested include: blood samples, urine samples, skin samples (when skin biopsy is being performed for clinical purposes), CSF (when spinal tap is being performed for clinical purposes). In order to evaluate eligibility, interested participants are asked to submit MRI images (CD or film) as well as clinical information.
Required Forms
Individuals wishing to participate in the above study should have their physician complete the clinical information form. In addition, consent forms are required for participation. Any adult wishing to participate should review and sign the consent form. Parents enrolling children should review and sign the consent form themselves and review the age appropriate assent form with their children. Assent forms must be signed by the participating child. In cases where a child is not able to provide assent, please use the waiver of assent. All forms should be submitted with the sample or if needed faxed separately to 202-476-2864. For any questions related to participation, please contact the study Principal Investigator, Adeline Vanderver, MD by email at avanderv@childrensnational.org or the study coordinator, Johanna Loewenstein, CGC, by email at jloewens@childrensnational.org.
Please send paperwork/MRIs and direct any questions to:
Adeline Vanderver, MD
Department of Neurology
Children’s National Medical Center
111 Michigan Ave, NW
Washington, DC 20010
Email: avanderv@childrensnational.org (fastest response)
Phone: 202-476-2120
Fax: 202-476- 2864
Cerebrospinal Fluid Asialotransferrin in Vanishing White Matter Disease Protocol
Principal Investigator: Adeline Vanderver, MD
We have identified a protein which is present in smaller quantities in the CSF (cerebrospinal fluid) of patients with Vanishing White Matter (VWM) disease compared to healthy children and children with other leukodystrophies. We would like to continue to study this test in children with (or suspected to have) VWM disease and those without to determine the sensitivity and specificity of this test.
CSF results are rapid (usually 2-3 weeks) relative to the much longer time required for sequencing of the eIF2B genes.
Participants who test negative for VWM by CSF will be offered inclusion in the Improved Diagnosis of Unclassified Leukodystrophies protocol to help determine the genetic cause of the participant’s leukodystrophy (separate consent will need to be provided).
In order to participate in this study participants must submit an MRI (either on CD or film) and their physician must complete our clinical information form. No samples will be included without receipt of these materials. Results of both the CSF and genetic testing will be reported back to the referring physician. Currently we are CLIA and New York State approved to perform sequencing for the eIF2B1-5 genes in our laboratory.
Required Forms
Individuals wishing to participate in the above study should have their physician complete the clinical information form. In addition, consent forms are required for participation. Any adult wishing to participate should review and sign the consent form. Parents enrolling children should review and sign the consent form themselves and review the age appropriate assent form with their children. Assent forms must be signed by the participating child. In cases where a child is not able to provide assent, please use the waiver of assent. All forms should be submitted with the sample or if needed faxed separately to 202-476-6014. For any questions related to participation, please contact the study Principal Investigator, Adeline Vanderver, MD by email at avanderv@childrensnational.org.
Specimen requirements:
2ml of CSF centrifuged at 300 RPM, frozen at -80 degrees and shipped overnight mail on 5-10 lbs of dry ice.
Please send samples to:
c/o Adeline Vanderver, MD
5th Floor Research, Center 3
Children’s National Medical Center
111 Michigan Ave, NW
Washington, DC 20010
Phone: 202-476-6012
Please send paperwork/MRIs and direct any questions regarding participation or results to:
Adeline Vanderver, MD
Department of Neurology
Children’s National Medical Center
111 Michigan Ave, NW
Washington, DC 20010
Email: avanderv@childrensnational.org (fastest response)
Phone: 202-476-2120
Fax: 202-476-2864
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