The Myelin Disorders Biorepository Project
Conditions
Leukodystrophy · White Matter Disease · Leukoencephalopathies · 4H Syndrome · Adrenoleukodystrophy · AMN · ALD · ALD Gene Mutation · ALD (Adrenoleukodystrophy) · X-linked Adrenoleukodystrophy · X-ALD · Adrenomyeloneuropathy · Aicardi Goutieres Syndrome · AGS · Alexander Disease · Alexanders Leukodystrophy · AxD · ADLD · Canavan Disease · CTX · Cerebrotendinous Xanthomatoses · Krabbe Disease · GALC Deficiency · Globoid Leukodystrophy · TUBB4A-Related Leukodystrophy · H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum · HBSL · HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity · LBSL · Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder) · Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation · ALSP · CSF1R Gene Mutation · HCC - Hypomyelination and Congenital Cataract · MLC1 · Megalencephalic Leukoencephalopathy With Subcortical Cysts · MLD · Metachromatic Leukodystrophy · PMD · Pelizaeus-Merzbacher Disease · PLP1 Null Syndrome · PLP1 Gene Duplication | Blood or Tissue | Mutations · Pelizaeus Merzbacher Like Disease · Peroxisomal Biogenesis Disorder · Zellweger Syndrome · Refsum Disease · Salla Disease · Sialic Storage Disease · Sjögren · Sjogren-Larsson Syndrome · Van Der Knapp Disease · Vanishing White Matter Disease · Charcot-Marie-Tooth · CMT · Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency · Allan-Herndon-Dudley Syndrome · Cadasil · Cockayne Syndrome · Multiple Sulfatase Deficiency · Gangliosidoses · GM2 Gangliosidosis · BPAN · Labrune Syndrome · LCC · Mucopolysaccharidoses · TBCK-Related Intellectual Disability Syndrome
Simple summaryAI-assisted
This summary is produced by a language model and is experimental. It may be incomplete or inaccurate and is not a substitute for professional medical advice.
Locations
Children's Hospital of Los Angeles, Los Angeles, California, United States
Contact: Study coordinator (Jonathan Santoro, MD)Children's Hospital of Orange County, Orange, California, United States
Contact: Study coordinator (Changrui Xiao, MD)Stanford University (Lucile Packard Children's Hospital), Palo Alto, California, United States
Contact: Study coordinator (Keith Van Haren, MD)University of California, Davis (UC Davis Health), Sacramento, California, United States
Contact: Study coordinator (William Benko, MD)University of California, San Diego (Rady Children's Hospital), San Diego, California, United States
Contact: Study coordinator (Jennifer Yang, MD)UCSF Benioff Children's Hospital, San Francisco, California, United States
Contact: Study coordinator (Alexander Fay, MD, PhD)Children's National Medical Center, Washington D.C., District of Columbia, United States
Contact: Study coordinator (Jamie Fraser, MD, PhD)Emory University (Children's Healthcare of Atlanta), Atlanta, Georgia, United States
Contact: Study coordinator (Stephanie Keller, MD)Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States
Contact: Study coordinator (Jennifer P Rubin, MD)Kennedy Krieger Institute, Baltimore, Maryland, United States
Contact: Study coordinator (Ali Fatemi, MD, MBA)Massachusetts General Hospital (MGH), Boston, Massachusetts, United States
Contact: Study coordinator (Florian Eichler, MD)University of Minnesota, Minneapolis, Minnesota, United States
Contact: Study coordinator (Paul Orchard, MD)Mayo Clinic, Rochester, Minnesota, United States
Contact: Study coordinator (Radhika Dhamija, MBBS)Atrium Health Wake Forest Baptist, Winston-Salem, North Carolina, United States
Contact: Study coordinator (Jennifer Harmon, MD, PhD)Akron Children's Hospital, Akron, Ohio, United States
Contact: Study coordinator (Matthew Ginsberg, MD)Nationwide Children's Hospital, Columbus, Ohio, United States
Contact: Study coordinator (Margie Ream, MD, PhD)The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
Contact: Principal Investigator (Adeline Vanderver, MD)Laura Adang, MD, PhD, MSTR (Sub-investigator)Amy Waldman, MD, MSCE (Sub-investigator)University of Pennsylvania, Philadelphia, Pennsylvania, United States
Contact: Study coordinator (Jennifer Orthmann-Murphy, MD, PhD)University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, United States
Contact: Study coordinator (Deepa Rajan, MD)Baylor College of Medicine (Texas Children's Hospital), Houston, Texas, United States
Contact: Study coordinator (Lisa Emrick, MD)UT Health Houston, Houston, Texas, United States
Contact: Study coordinator (Mary Kay Koenig, MD)University of Utah (Primary Children's Hospital), Salt Lake City, Utah, United States
Contact: Study coordinator (Joshua Bonkowsky, MD, PhD)Seattle Children's Hospital, Seattle, Washington, United States
Contact: Study coordinator (Emily Shelkowitz, MD)
Study leads
Adeline Vanderver, MD
Principal Investigator
Children's Hospital of Philadelphia