Ignite Creation Date:
2025-12-17 @ 2:47 PM
Ignite Modification Date:
2025-12-23 @ 4:53 PM
Study NCT ID:
NCT01688895
Status:
COMPLETED
Last Update Posted:
2020-04-17
First Post:
2012-09-14
Is Possible Gene Therapy:
False
Has Adverse Events:
True
Brief Title:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-22'}, 'conditionBrowseModule': {'meshes': [{'id': 'D046351', 'term': 'Protoporphyria, Erythropoietic'}, {'id': 'C567464', 'term': 'Protoporphyria, Erythropoietic, X-Linked Dominant'}, {'id': 'D011164', 'term': 'Porphyrias'}], 'ancestors': [{'id': 'D017094', 'term': 'Porphyrias, Hepatic'}, {'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'hetanshi.naik@mssm.edu', 'phone': '212-241-7699', 'title': 'Dr. Hetanshi Naik', 'organization': 'Icahn School of Medicine at Mount Sinai'}, 'certainAgreement': {'restrictionType': 'LTE60', 'piSponsorEmployee': False, 'restrictiveAgreement': True}}, 'adverseEventsModule': {'timeFrame': '1 week', 'eventGroups': [{'id': 'EG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)', 'otherNumAtRisk': 150, 'deathsNumAtRisk': 150, 'otherNumAffected': 0, 'seriousNumAtRisk': 150, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'The Hospital Anxiety and Depression Scale (HADS)', 'denoms': [{'units': 'Participants', 'counts': [{'value': '103', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'classes': [{'title': 'Anxiety', 'categories': [{'measurements': [{'value': '4.6', 'spread': '4.1', 'groupId': 'OG000'}]}]}, {'title': 'Depression', 'categories': [{'measurements': [{'value': '1.9', 'spread': '2.1', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': '1 weeks', 'description': 'Questionnaire with 7 items for anxiety and 7 items for depression, each item is scored on a 4 point response 0 - 3, subscales 0-21, with full range from 0 to 42, with higher score indicating more severe anxiety or depression.', 'unitOfMeasure': 'score on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Data only for those who completed instrument included. A protocol modification to add the HADS tool was done after study initiation, therefore not all subjects received all tools.'}, {'type': 'PRIMARY', 'title': 'Illness Perception Questionnaire Revised (IPQR)', 'denoms': [{'units': 'Participants', 'counts': [{'value': '104', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'classes': [{'title': 'Timeline', 'categories': [{'measurements': [{'value': '23.4', 'spread': '2.2', 'groupId': 'OG000'}]}]}, {'title': 'Consequences', 'categories': [{'measurements': [{'value': '23.2', 'spread': '4.3', 'groupId': 'OG000'}]}]}, {'title': 'Personal Control', 'categories': [{'measurements': [{'value': '19.0', 'spread': '4.9', 'groupId': 'OG000'}]}]}, {'title': 'Treatment Control', 'categories': [{'measurements': [{'value': '9.2', 'spread': '2.8', 'groupId': 'OG000'}]}]}, {'title': 'Illness Coherence', 'categories': [{'measurements': [{'value': '19.0', 'spread': '4.2', 'groupId': 'OG000'}]}]}, {'title': 'Timeline - Cyclical', 'categories': [{'measurements': [{'value': '10.5', 'spread': '3.8', 'groupId': 'OG000'}]}]}, {'title': 'Emotional Representations', 'categories': [{'measurements': [{'value': '18.8', 'spread': '5.5', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': '1 week', 'description': 'Each item is scored on a likert scale from 1 (strongly disagree) to 5 (strongly agree). Items within each domain were totaled for final domain scores.\n\nSeven domains - Timeline (score 5-25), Consequences (score 6-30), Personal Control (score 6-30), Treatment Control (score 3-15), Illness Coherence (score 5-25), Timeline-Cyclical (score 4-20), and Emotional Representations (score 6-30). A modified version without the identity component was used as it was not applicable in EPP.\n\nHigher scores domains indicate overall strong beliefs that the disease is chronic and has a negative impact.', 'unitOfMeasure': 'score on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Data only for those who completed instrument included. A protocol modification to add the IPQR tool was done after study initiation, therefore not all subjects received all tools.'}, {'type': 'PRIMARY', 'title': 'EPP-Specific Tool', 'denoms': [{'units': 'Participants', 'counts': [{'value': '107', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'classes': [{'title': 'S Domain', 'categories': [{'measurements': [{'value': '58.9', 'spread': '30.8', 'groupId': 'OG000'}]}]}, {'title': 'Q Domain', 'categories': [{'measurements': [{'value': '30.8', 'spread': '27.4', 'groupId': 'OG000'}]}]}, {'title': 'Total Score', 'categories': [{'measurements': [{'value': '54.3', 'spread': '30.0', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': '1 week', 'description': 'Each item was scored from 0-3 on a Likert scale. There are 2 domains: S=disease severity and Q=QoL. Total scale for each domain transferred to 0-100 scale. Higher scores for the S domain reflect lower severity, and higher satisfaction/QoL for the Q domain. Total Score from 0-100, with higher score indicating higher quality of life.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Data only for those who completed instrument included. A protocol modification to add the EPP-Specific tool was done after study initiation, therefore not all subjects received all tools.'}, {'type': 'SECONDARY', 'title': 'Sleep Disturbance PROMIS Scores', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'classes': [{'title': 'Pain Interference', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '49.1', 'spread': '9.7', 'groupId': 'OG000'}]}]}, {'title': 'Depression', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '44.1', 'spread': '8.4', 'groupId': 'OG000'}]}]}, {'title': 'Physical Function', 'denoms': [{'units': 'Participants', 'counts': [{'value': '116', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '52.5', 'spread': '7.8', 'groupId': 'OG000'}]}]}, {'title': 'Fatigue', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '46.6', 'spread': '10.6', 'groupId': 'OG000'}]}]}, {'title': 'Anxiety', 'denoms': [{'units': 'Participants', 'counts': [{'value': '116', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '47.3', 'spread': '10.0', 'groupId': 'OG000'}]}]}, {'title': 'Sleep Disturbance', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '48.7', 'spread': '8.9', 'groupId': 'OG000'}]}]}, {'title': 'Satisfaction with Social Roles', 'denoms': [{'units': 'Participants', 'counts': [{'value': '117', 'groupId': 'OG000'}]}], 'categories': [{'measurements': [{'value': '54.9', 'spread': '9.3', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'baseline', 'description': 'Sleep Subscales: Pain Interference, Depression, Physical Function, Fatigue, Anxiety, Sleep Disturbance, Satisfaction with Social Roles, each subscale scored from 0-100 with higher score indicating more symptoms affecting sleep.', 'unitOfMeasure': 'score on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': '\\*Only those subjects who completed the PROMIS was included'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '150'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '150'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '150', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Adult Patients With EPP/XLP', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}], 'measures': [{'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '40.9', 'spread': '14.5', 'groupId': 'BG000'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'STANDARD_DEVIATION'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '66', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '84', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '4', 'groupId': 'BG000'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '144', 'groupId': 'BG000'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '2', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Protoporphyria Type', 'classes': [{'categories': [{'title': 'Erythropoietic Protoporphyria - EPP', 'measurements': [{'value': '143', 'groupId': 'BG000'}]}, {'title': 'X-Linked Protoporphyria - XLP', 'measurements': [{'value': '6', 'groupId': 'BG000'}]}, {'title': 'Unknown type', 'measurements': [{'value': '1', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Age at Onset of Symptoms', 'classes': [{'categories': [{'measurements': [{'value': '4.2', 'spread': '4.5', 'groupId': 'BG000'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'STANDARD_DEVIATION'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2015-06-26', 'size': 918628, 'label': 'Study Protocol and Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'Prot_SAP_000.pdf', 'typeAbbrev': 'Prot_SAP', 'uploadDate': '2020-03-05T14:33', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA extracted from peripheral blood sample or buccal (inside cheek) sampling for DNA analysis; whole blood in ACD anti-coagulant to establish a lymphoid cell line, red blood cells and plasma for biochemical assays.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 150}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-04', 'completionDateStruct': {'date': '2019-07-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2020-04-13', 'studyFirstSubmitDate': '2012-09-14', 'resultsFirstSubmitDate': '2020-03-05', 'studyFirstSubmitQcDate': '2012-09-14', 'lastUpdatePostDateStruct': {'date': '2020-04-17', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2020-04-13', 'studyFirstPostDateStruct': {'date': '2012-09-20', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2020-04-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2019-07-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The Hospital Anxiety and Depression Scale (HADS)', 'timeFrame': '1 weeks', 'description': 'Questionnaire with 7 items for anxiety and 7 items for depression, each item is scored on a 4 point response 0 - 3, subscales 0-21, with full range from 0 to 42, with higher score indicating more severe anxiety or depression.'}, {'measure': 'Illness Perception Questionnaire Revised (IPQR)', 'timeFrame': '1 week', 'description': 'Each item is scored on a likert scale from 1 (strongly disagree) to 5 (strongly agree). Items within each domain were totaled for final domain scores.\n\nSeven domains - Timeline (score 5-25), Consequences (score 6-30), Personal Control (score 6-30), Treatment Control (score 3-15), Illness Coherence (score 5-25), Timeline-Cyclical (score 4-20), and Emotional Representations (score 6-30). A modified version without the identity component was used as it was not applicable in EPP.\n\nHigher scores domains indicate overall strong beliefs that the disease is chronic and has a negative impact.'}, {'measure': 'EPP-Specific Tool', 'timeFrame': '1 week', 'description': 'Each item was scored from 0-3 on a Likert scale. There are 2 domains: S=disease severity and Q=QoL. Total scale for each domain transferred to 0-100 scale. Higher scores for the S domain reflect lower severity, and higher satisfaction/QoL for the Q domain. Total Score from 0-100, with higher score indicating higher quality of life.'}], 'secondaryOutcomes': [{'measure': 'Sleep Disturbance PROMIS Scores', 'timeFrame': 'baseline', 'description': 'Sleep Subscales: Pain Interference, Depression, Physical Function, Fatigue, Anxiety, Sleep Disturbance, Satisfaction with Social Roles, each subscale scored from 0-100 with higher score indicating more symptoms affecting sleep.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['erythropoietic', 'protoporphyria', 'cutaneous', 'porphyria'], 'conditions': ['Erythropoietic Protoporphyria', 'EPP', 'X-Linked Protoporphyria', 'XLP', 'XLPP', 'X-Linked Dominant Erythropoietic Protoporphyria', 'XLEPP', 'XLDP']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.rarediseasesnetwork.org/cms/porphyrias', 'label': 'Website for the Rare Diseases Clinical Research Network (RDCRN) Porphyrias Consortium (PC)'}]}, 'descriptionModule': {'briefSummary': 'The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemical, and genetic studies. The long-term objectives are (1) to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic protoporphyria, (2) to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults, and (3) to investigate the correlation between the identified genotypes and the resulting clinical presentation, also determining the possible interaction of other genetic markers.', 'detailedDescription': 'The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common manifestations are related to accumulation of intermediates in the pathway and usually occur as acute neurological attacks (as in the acute or hepatic porphyrias), or cutaneous photosensitivity (as in the cutaneous porphyrias, including the erythropoietic protoporphyrias). Multiple mutations have been identified in each of the porphyrias. The risk of disability or death from these disorders is significant, in part because diagnosis is often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover, the natural history of these disorders is not well described and it is not known what determines differences in outcomes. New therapies are needed. For existing therapies, high-quality evidence on short and long term efficacy and safety is generally lacking. Therefore, the purpose of this study of a large group of patients with EPP and XLP is to provide a better understanding of the natural history of these disorders, as affected by available therapies, and to aid in developing new forms of treatment. Much of the data collected on subjects as participants in the Longitudinal Study of the Porphyrias will be accessed for this study specific to the investigation of the erythropoietic protoporphyrias. To maximize the information that can be informative in our objectives, additional data will be collected, including additional biochemical findings and EPP-specific psychosocial parameters.\n\nThe Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes and currently has funded 19 rare diseases clinical research consortia and one Data Management and Coordinating Center. The Porphyrias Consortium was created as part of the RDCRN, to study the human porphyrias. The Porphyrias Consortium is a consortium of the academic institutions listed in the participating institutions table. All Centers in the Porphyrias Consortium are participating in this study. Additional centers may be added if funding is available.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Subjects will be recruited from the following resources:\n\n1. Patients followed by one of the Investigators\n2. The American Porphyria Foundation (APF)\n3. The Rare Diseases Clinical Research Network (RDCRN) Contact Registry\n4. Non-study Physician referrals\n5. Self-referrals, including family members of individuals diagnosed with Porphyria (proband) and other individuals who may have heard about the study from other subjects or prospective subjects.\n6. Medical Records Review', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* All subjects must also be enrolled in the Longitudinal Study of the Porphyrias.\n* Willing to sign informed consent form\n* Biochemical findings - A marked increase in erythrocyte protoporphyrin \\[total erythrocyte protoporphyrin \\>200 ug/dL, or more than 1.5-fold increase (relative to ULN of 80 ug/dL)\\], with a predominance of free protoporphyrin (85-100% in EPP and 50-85% in XLP).\n* Molecular findings - one of the following:\n\n 1. A disease causing FECH mutation trans to the IVS3-48C\\>T low expression FECH allele\n 2. Two disease-causing FECH mutations\n 3. A gain-of-function ALAS-2 C-terminal deletion/exon 11 mutation (in XLP). If no mutation is found and subjects fulfill criteria 1-3 they are eligible for enrollment.\n\nExclusion Criteria:\n\n* cases with elevations of porphyrins in urine, plasma or erythrocytes due to other diseases (i.e. secondary porphyrinuria or porphyrinemia), such as liver and bone marrow diseases \\[Gibson 2000\\].\n* patients with a prior diagnosis of porphyria that cannot be documented by review of existing medical records or repeat biochemical or DNA testing.'}, 'identificationModule': {'nctId': 'NCT01688895', 'briefTitle': 'Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact', 'organization': {'class': 'OTHER', 'fullName': 'Icahn School of Medicine at Mount Sinai'}, 'officialTitle': 'Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact', 'orgStudyIdInfo': {'id': 'GCO 08-0959-04'}, 'secondaryIdInfos': [{'id': 'HSM12-00307', 'type': 'OTHER', 'domain': 'Mount Sinai School of Medicine'}, {'id': 'U54DK083909', 'link': 'https://reporter.nih.gov/quickSearch/U54DK083909', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Participants with Protoporphyrias', 'description': 'Individuals with a documented diagnosis of Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)'}]}, 'contactsLocationsModule': {'locations': [{'zip': '35294-0012', 'city': 'Birmingham', 'state': 'Alabama', 'country': 'United States', 'facility': 'University of Alabama, Birmingham', 'geoPoint': {'lat': 33.52066, 'lon': -86.80249}}, {'zip': '94143', 'city': 'San Francisco', 'state': 'California', 'country': 'United States', 'facility': 'University of California, San Francisco', 'geoPoint': {'lat': 37.77493, 'lon': -122.41942}}, {'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Icahn School of Medicine at Mount Sinai', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '27106', 'city': 'Winston-Salem', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Wake Forest University Health Sciences', 'geoPoint': {'lat': 36.09986, 'lon': -80.24422}}, {'zip': '77555', 'city': 'Galveston', 'state': 'Texas', 'country': 'United States', 'facility': 'University of Texas Medical Branch', 'geoPoint': {'lat': 29.30135, 'lon': -94.7977}}, {'zip': '84132', 'city': 'Salt Lake City', 'state': 'Utah', 'country': 'United States', 'facility': 'University of Utah', 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}], 'overallOfficials': [{'name': 'Manisha Balwani, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Icahn School of Medicine at Mount Sinai'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Icahn School of Medicine at Mount Sinai', 'class': 'OTHER'}, 'collaborators': [{'name': 'Rare Diseases Clinical Research Network', 'class': 'NETWORK'}, {'name': 'Office of Rare Diseases (ORD)', 'class': 'NIH'}, {'name': 'National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR'}}}}