Ignite Creation Date:
2025-12-24 @ 11:02 PM
Ignite Modification Date:
2025-12-30 @ 9:59 AM
Study NCT ID:
NCT03047369
Status:
RECRUITING
Last Update Posted:
2025-10-23
First Post:
2017-02-01
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
The Myelin Disorders Biorepository Project
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D056784', 'term': 'Leukoencephalopathies'}, {'id': 'D001289', 'term': 'Attention Deficit Disorder with Hyperactivity'}, {'id': 'D000326', 'term': 'Adrenoleukodystrophy'}, {'id': 'C535607', 'term': 'Aicardi-Goutieres syndrome'}, {'id': 'D038261', 'term': 'Alexander Disease'}, {'id': 'C531607', 'term': 'Alexanders leukodystrophy'}, {'id': 'D017825', 'term': 'Canavan Disease'}, {'id': 'D019294', 'term': 'Xanthomatosis, Cerebrotendinous'}, {'id': 'D007965', 'term': 'Leukodystrophy, Globoid Cell'}, {'id': 'C567314', 'term': 'Leukodystrophy, Hypomyelinating, 6'}, {'id': 'C567009', 'term': 'Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation'}, {'id': 'C567166', 'term': 'Leukodystrophy, Hypomyelinating, 5'}, {'id': 'C536141', 'term': 'Megalencephalic leukoencephalopathy with subcortical cysts'}, {'id': 'D007966', 'term': 'Leukodystrophy, Metachromatic'}, {'id': 'D020371', 'term': 'Pelizaeus-Merzbacher Disease'}, {'id': 'D018901', 'term': 'Peroxisomal Disorders'}, {'id': 'D015211', 'term': 'Zellweger Syndrome'}, {'id': 'D012035', 'term': 'Refsum Disease'}, {'id': 'D029461', 'term': 'Sialic Acid Storage Disease'}, {'id': 'D012859', 'term': "Sjogren's Syndrome"}, {'id': 'D016111', 'term': 'Sjogren-Larsson Syndrome'}, {'id': 'D002607', 'term': 'Charcot-Marie-Tooth Disease'}, {'id': 'C537047', 'term': 'Allan-Herndon-Dudley syndrome'}, {'id': 'D046589', 'term': 'CADASIL'}, {'id': 'D003057', 'term': 'Cockayne Syndrome'}, {'id': 'D052517', 'term': 'Multiple Sulfatase Deficiency Disease'}, {'id': 'D005733', 'term': 'Gangliosidoses'}, {'id': 'D020143', 'term': 'Gangliosidoses, GM2'}, {'id': 'C000598644', 'term': 'Leukoencephalopathy Brain Calcifications and Cysts'}, {'id': 'D009083', 'term': 'Mucopolysaccharidoses'}], 'ancestors': [{'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D019958', 'term': 'Attention Deficit and Disruptive Behavior Disorders'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D020279', 'term': 'Hereditary Central Nervous System Demyelinating Diseases'}, {'id': 'D003711', 'term': 'Demyelinating Diseases'}, {'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D000309', 'term': 'Adrenal Insufficiency'}, {'id': 'D000307', 'term': 'Adrenal Gland Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D014973', 'term': 'Xanthomatosis'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D052516', 'term': 'Sulfatidosis'}, {'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D007674', 'term': 'Kidney Diseases'}, {'id': 'D014570', 'term': 'Urologic Diseases'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D015417', 'term': 'Hereditary Sensory and Motor Neuropathy'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D011115', 'term': 'Polyneuropathies'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D001172', 'term': 'Arthritis, Rheumatoid'}, {'id': 'D001168', 'term': 'Arthritis'}, {'id': 'D007592', 'term': 'Joint Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D012216', 'term': 'Rheumatic Diseases'}, {'id': 'D014987', 'term': 'Xerostomia'}, {'id': 'D012466', 'term': 'Salivary Gland Diseases'}, {'id': 'D009059', 'term': 'Mouth Diseases'}, {'id': 'D009057', 'term': 'Stomatognathic Diseases'}, {'id': 'D015352', 'term': 'Dry Eye Syndromes'}, {'id': 'D007766', 'term': 'Lacrimal Apparatus Diseases'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D007057', 'term': 'Ichthyosis'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D007232', 'term': 'Infant, Newborn, Diseases'}, {'id': 'D007642', 'term': 'Keratosis'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D002544', 'term': 'Cerebral Infarction'}, {'id': 'D020520', 'term': 'Brain Infarction'}, {'id': 'D002545', 'term': 'Brain Ischemia'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D015140', 'term': 'Dementia, Vascular'}, {'id': 'D002539', 'term': 'Cerebral Arterial Diseases'}, {'id': 'D020765', 'term': 'Intracranial Arterial Diseases'}, {'id': 'D020521', 'term': 'Stroke'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D007238', 'term': 'Infarction'}, {'id': 'D007511', 'term': 'Ischemia'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D009336', 'term': 'Necrosis'}, {'id': 'D004392', 'term': 'Dwarfism'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D049914', 'term': 'DNA Repair-Deficiency Disorders'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D017520', 'term': 'Mucinoses'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Samples may be collected from affected subjects, as well as healthy controls. Samples may include blood, skin punch biopsy, CSF, urine, etc.) collected either for research or in the context of clinical procedures.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 12000}, 'targetDuration': '10 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2016-12-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-10', 'completionDateStruct': {'date': '2030-12-08', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-22', 'studyFirstSubmitDate': '2017-02-01', 'studyFirstSubmitQcDate': '2017-02-08', 'lastUpdatePostDateStruct': {'date': '2025-10-23', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2017-02-09', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2030-12-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Define Novel Homogeneous Groups of Patients with Unclassified Leukodystrophy', 'timeFrame': '10 years from enrollment', 'description': 'In patients with an unclassified leukodystrophy, the study team will collect as much information as available from existing medical records including existing clinical evaluations, neuropsychological/rehabilitation evaluations, and results from blood, urine, spinal fluid, radiological, and peripheral tissue pathological tests. This data will be evaluated to create nosologic groups amongst patients with unclassified leukodystrophy. Additionally, this aim includes the collection and long-term banking of biological samples in subjects with classified and unclassified leukodystrophies to develop a biorepository. These samples will be compared to samples collected from control subjects, either collected directly from enrolled subjects or through existing banked biological samples.'}], 'secondaryOutcomes': [{'measure': 'Assess Validity of Next-Generation Sequencing in the Diagnosis of Leukodystrophies', 'timeFrame': '10 years from enrollment', 'description': 'Unclassified leukodystrophy patients enrolled in this study may undergo next generation sequencing approaches, including research whole exome sequencing (WES), whole genome sequencing (WGS), RNA sequencing and high throughput genomics analysis in parallel to standard clinical testing to achieve novel molecular classifications.'}, {'measure': 'Assess Utility of Next-Generation Sequencing in the Diagnosis of Leukodystrophies', 'timeFrame': '10 years from enrollment', 'description': 'Clinical utility defined as changes in care and clinical state, included changes in medical morbidities, surgeries, pharmacologic management of complications and implementation of disease specific therapies.'}, {'measure': 'Track Current Care of Leukodystrophy Patients', 'timeFrame': '10 years from enrollment', 'description': 'Includes a longitudinal collection of clinical data on diagnostic and therapeutic interventions in leukodystrophy patients and related controls.'}, {'measure': 'Track Natural History of Leukodystrophy Patients', 'timeFrame': '10 years from enrollment', 'description': 'Includes longitudinal collection of clinical data on disease presentation, progression and morbidities.'}, {'measure': 'Establish Disease Mechanisms in Leukodystrophies', 'timeFrame': '10 years from enrollment', 'description': 'Specific leukodystrophies will be selected for further mechanistic study, using clinical and laboratory tools to establish increased understanding of the underlying pathophysiology. The over-riding hypothesis of this aim is that integrated biochemical, genomic, metabolic, histologic and immunologic profiles of patients with leukodystrophy will define downstream pathway changes consistent with primary defects causing white matter disease. Appropriate controls will be used for comparison to disease related samples.'}, {'measure': 'Contact for Future Research Studies and/or Clinical Programs', 'timeFrame': '10 years from enrollment', 'description': "Individuals enrolled in the study may be informed of other research studies, either at the Children's Hospital of Philadelphia or another site affiliated or not affiliated with this study, that may be of interest to them and/or their their families based on a specific diagnosis or lack thereof."}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['leukodystrophy', 'white matter disease', 'leukoencephalopathy', 'myelin', 'demyelinating', 'mdbp'], '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']}, 'referencesModule': {'references': [{'pmid': '32749716', 'type': 'DERIVED', 'citation': 'Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.'}]}, 'descriptionModule': {'briefSummary': "The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.", 'detailedDescription': 'Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by the investigator achieved a diagnosis in fewer than 46% of cases after extensive conventional clinical testing. Even when a diagnosis is achieved, the diagnosis takes an average of eight years and this "odyssey" results in testing charges to patients and insurers in excess of $8,000 on average per patient, including patients who never achieve a diagnosis at all. With next generation approaches such as whole exome sequencing, the diagnostic efficacy is closer to 70%, but approximately a third of individuals do not achieve a specific etiologic diagnosis. These diagnostic challenges represent an urgent and unresolved gap in knowledge and disease characterization, as obtaining a definitive diagnosis is of paramount importance for leukodystrophy patients.\n\nMoreover, the mechanisms of disease in many leukodystrophies of known cause are very poorly understood, with little known about the best symptomatic management and, thus, limited standards of care are available for the management of these patients.\n\nThe purpose of this study is to: (Aim 1) Define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders; (Aim 2) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (Aim 3) establish disease mechanisms in selected known leukodystrophies; (Aim 4) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; (Aim 5) contact subjects for future research studies and/or clinical programs.\n\nThis biorepository will use available basic science and clinical research approaches to establish novel diagnoses, biomarkers, and outcome measures for future clinical diagnostic and therapeutic approaches.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Affected subjects will have either a confirmed or suspected diagnosis of leukodystrophy, or a related heritable disorder affecting the white matter of the brain. Healthy controls must be individuals in whom no leukodystrophy or related disorder has been suspected or confirmed.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and/or provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent."}, 'identificationModule': {'nctId': 'NCT03047369', 'acronym': 'MDBP', 'briefTitle': 'The Myelin Disorders Biorepository Project', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital of Philadelphia"}, 'officialTitle': 'The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network', 'orgStudyIdInfo': {'id': '14-011236'}, 'secondaryIdInfos': [{'id': 'U54NS115052', 'link': 'https://reporter.nih.gov/quickSearch/U54NS115052', 'type': 'NIH'}, {'id': 'U01NS106845', 'link': 'https://reporter.nih.gov/quickSearch/U01NS106845', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '90027', 'city': 'Los Angeles', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jonathan Santoro, MD', 'role': 'CONTACT'}], 'facility': "Children's Hospital of Los Angeles", 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'zip': '92868', 'city': 'Orange', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Changrui Xiao, MD', 'role': 'CONTACT'}], 'facility': "Children's Hospital of Orange County", 'geoPoint': {'lat': 33.78779, 'lon': -117.85311}}, {'zip': '94304', 'city': 'Palo Alto', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Keith Van Haren, MD', 'role': 'CONTACT'}], 'facility': "Stanford University (Lucile Packard Children's Hospital)", 'geoPoint': {'lat': 37.44188, 'lon': -122.14302}}, {'zip': '95817', 'city': 'Sacramento', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'William Benko, MD', 'role': 'CONTACT'}], 'facility': 'University of California, Davis (UC Davis Health)', 'geoPoint': {'lat': 38.58157, 'lon': -121.4944}}, {'zip': '92123', 'city': 'San Diego', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jennifer Yang, MD', 'role': 'CONTACT'}], 'facility': "University of California, San Diego (Rady Children's Hospital)", 'geoPoint': {'lat': 32.71571, 'lon': -117.16472}}, {'zip': '94158', 'city': 'San Francisco', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Alexander Fay, MD, PhD', 'role': 'CONTACT'}], 'facility': "UCSF Benioff Children's Hospital", 'geoPoint': {'lat': 37.77493, 'lon': -122.41942}}, {'zip': '20010', 'city': 'Washington D.C.', 'state': 'District of Columbia', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jamie Fraser, MD, PhD', 'role': 'CONTACT'}], 'facility': "Children's National Medical Center", 'geoPoint': {'lat': 38.89511, 'lon': -77.03637}}, {'zip': '30342', 'city': 'Atlanta', 'state': 'Georgia', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Stephanie Keller, MD', 'role': 'CONTACT'}], 'facility': "Emory University (Children's Healthcare of Atlanta)", 'geoPoint': {'lat': 33.749, 'lon': -84.38798}}, {'zip': '60611', 'city': 'Chicago', 'state': 'Illinois', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jennifer P Rubin, MD', 'role': 'CONTACT'}], 'facility': "Ann & Robert H. Lurie Children's Hospital of Chicago", 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '21205', 'city': 'Baltimore', 'state': 'Maryland', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ali Fatemi, MD, MBA', 'role': 'CONTACT'}], 'facility': 'Kennedy Krieger Institute', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'zip': '02114', 'city': 'Boston', 'state': 'Massachusetts', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Florian Eichler, MD', 'role': 'CONTACT'}], 'facility': 'Massachusetts General Hospital (MGH)', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '55454', 'city': 'Minneapolis', 'state': 'Minnesota', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Paul Orchard, MD', 'role': 'CONTACT'}], 'facility': 'University of Minnesota', 'geoPoint': {'lat': 44.97997, 'lon': -93.26384}}, {'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Radhika Dhamija, MBBS', 'role': 'CONTACT'}], 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}, {'zip': '27157', 'city': 'Winston-Salem', 'state': 'North Carolina', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jennifer Harmon, MD, PhD', 'role': 'CONTACT'}], 'facility': 'Atrium Health Wake Forest Baptist', 'geoPoint': {'lat': 36.09986, 'lon': -80.24422}}, {'zip': '44308', 'city': 'Akron', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Matthew Ginsberg, MD', 'role': 'CONTACT'}], 'facility': "Akron Children's Hospital", 'geoPoint': {'lat': 41.08144, 'lon': -81.51901}}, {'zip': '43205', 'city': 'Columbus', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Margie Ream, MD, PhD', 'role': 'CONTACT'}], 'facility': "Nationwide Children's Hospital", 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Omar Sherbini, MPH', 'role': 'CONTACT', 'email': 'sherbinio@chop.edu', 'phone': '215-590-3068'}, {'name': 'Adeline Vanderver, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Laura Adang, MD, PhD, MSTR', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Amy Waldman, MD, MSCE', 'role': 'SUB_INVESTIGATOR'}], 'facility': "The Children's Hospital of Philadelphia", 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jennifer Orthmann-Murphy, MD, PhD', 'role': 'CONTACT'}], 'facility': 'University of Pennsylvania', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '15219', 'city': 'Pittsburgh', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Deepa Rajan, MD', 'role': 'CONTACT'}], 'facility': 'University of Pittsburgh Medical Center', 'geoPoint': {'lat': 40.44062, 'lon': -79.99589}}, {'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Lisa Emrick, MD', 'role': 'CONTACT'}], 'facility': "Baylor College of Medicine (Texas Children's Hospital)", 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Mary Kay Koenig, MD', 'role': 'CONTACT'}], 'facility': 'UT Health Houston', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '84112', 'city': 'Salt Lake City', 'state': 'Utah', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Joshua Bonkowsky, MD, PhD', 'role': 'CONTACT'}], 'facility': "University of Utah (Primary Children's Hospital)", 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Emily Shelkowitz, MD', 'role': 'CONTACT'}], 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}], 'centralContacts': [{'name': 'Omar S. Sherbini, MPH', 'role': 'CONTACT', 'email': 'sherbinio@chop.edu', 'phone': '215-590-3068'}], 'overallOfficials': [{'name': 'Adeline Vanderver, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospital of Philadelphia"}]}, 'ipdSharingStatementModule': {'timeFrame': 'IPD may be shared at any time.', 'ipdSharing': 'YES', 'description': 'IPD will be made available to researchers, sponsors, and other stakeholders. Data Use Agreement (DUA) must be put in place with any recipient of IPD. Only aggregate data will be shared publicly.', 'accessCriteria': 'Only aggregate data will be shared publicly. Please contact a member of the central study team for information regarding the release of IPD.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital of Philadelphia", 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institutes of Health (NIH)', 'class': 'NIH'}, {'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}, {'name': 'National Center for Advancing Translational Sciences (NCATS)', 'class': 'NIH'}, {'name': 'Biogen', 'class': 'INDUSTRY'}, {'name': 'Eli Lilly and Company', 'class': 'INDUSTRY'}, {'name': 'Myrtelle Inc.', 'class': 'INDUSTRY'}, {'name': 'Orchard Therapeutics Ltd.', 'class': 'UNKNOWN'}, {'name': 'Passage Bio, Inc.', 'class': 'INDUSTRY'}, {'name': 'Synaptix Biotherapeutics Ltd.', 'class': 'UNKNOWN'}, {'name': 'Takeda', 'class': 'INDUSTRY'}, {'name': 'Boehringer Ingelheim', 'class': 'INDUSTRY'}, {'name': 'Ionis Pharmaceuticals, Inc.', 'class': 'INDUSTRY'}, {'name': 'Sanofi Winthrop Industrie', 'class': 'UNKNOWN'}, {'name': 'Sana Biotechnology', 'class': 'INDUSTRY'}, {'name': 'Yaya Foundation for 4H Leukodystrophy', 'class': 'UNKNOWN'}, {'name': 'University of Pennsylvania', 'class': 'OTHER'}, {'name': 'United MSD Foundation', 'class': 'UNKNOWN'}, {'name': 'Foundation to Fight H-ABC', 'class': 'UNKNOWN'}, {'name': 'Calliope Joy Foundation', 'class': 'UNKNOWN'}, {'name': "Don't Forget Me Foundation", 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Program Director, Leukodystrophy Center', 'investigatorFullName': 'Adeline Vanderver, MD', 'investigatorAffiliation': "Children's Hospital of Philadelphia"}}}}