Ignite Creation Date:
2025-12-24 @ 1:42 PM
Ignite Modification Date:
2025-12-27 @ 10:11 PM
Study NCT ID:
NCT04143295
Status:
AVAILABLE
Last Update Posted:
2025-12-11
First Post:
2018-04-24
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Rescue of Infants With MCT8 Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C537047', 'term': 'Allan-Herndon-Dudley syndrome'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C082182', 'term': '3,5-diiodothyropropionic acid'}]}}, 'protocolSection': {'designModule': {'studyType': 'EXPANDED_ACCESS', 'expandedAccessTypes': {'treatment': True, 'individual': True}}, 'statusModule': {'overallStatus': 'AVAILABLE', 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'lastUpdateSubmitDate': '2025-12-03', 'studyFirstSubmitDate': '2018-04-24', 'studyFirstSubmitQcDate': '2019-10-28', 'lastUpdatePostDateStruct': {'date': '2025-12-11', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2019-10-29', 'type': 'ACTUAL'}}, 'conditionsModule': {'conditions': ['Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency']}, 'descriptionModule': {'briefSummary': 'Monocarboxylate Transporter 8 (MCT8) deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively in males, disrupts development from before birth.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'genderBased': True, 'genderDescription': 'MCT8 mutation carrier mother with previously affected MCT8 deficient male will be screened for male fetal DNA as soon as she aware she is pregnant (week 4-7).', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria\n\n* Genetic Confirmation: Male fetus or fetuses (including monozygotic twin pregnancies) must have a confirmed MCT8 gene mutation.\n* Family History: A previously born child or children with a severe, typical phenotype and an MCT8 gene mutation identical to that of the fetus.\n* Alternatively, the mother or a sister must have a relative with a known MCT8 defect.\n* Parental Decision: Parental refusal to terminate the pregnancy despite the diagnosis of MCT8 deficiency.\n* Compliance and Availability: Willingness of the parents to comply with all study procedures and ensure availability for the duration of the study.\n\nExclusion Criteria:\n\n• Pregnancy-Related Factors: Dizygotic (non-identical) twin pregnancy (unless only one fetus is confirmed with the MCT8 mutation, and the unaffected fetus will not be treated).\n\nParental decision to terminate the pregnancy.\n\n• Maternal Medical Conditions: Hyperthyroidism requiring treatment. Significant liver or kidney insufficiency. Congestive heart failure. Hyperemesis gravidarum unresponsive to treatment.\n\n* Significant cardiac conditions, including:\n* Atrial fibrillation or other arrhythmias.\n* Unstable angina.\n* Coronary heart disease.\n* Medications:\n\nCurrent use of sympathomimetic therapy. Anticoagulant therapy. Use of Cytochrome P450 2C9 (CYP2C9) inhibitors with a narrow therapeutic index.\n\n• Other Factors: Major illness or recent major surgery within four weeks of baseline visit 1, unrelated to MCT8 deficiency.'}, 'identificationModule': {'nctId': 'NCT04143295', 'acronym': 'DITPA', 'briefTitle': 'Rescue of Infants With MCT8 Deficiency', 'organization': {'class': 'OTHER', 'fullName': 'University of Miami'}, 'officialTitle': 'Rescue of Infants With MCT8 Deficiency', 'orgStudyIdInfo': {'id': '20180087'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Diiodothyropropionic acid (DITPA)', 'type': 'DRUG', 'description': 'Drug Administration'}]}, 'contactsLocationsModule': {'locations': [{'zip': '33136', 'city': 'Miami', 'state': 'Florida', 'status': 'AVAILABLE', 'country': 'United States', 'contacts': [{'name': 'Roy E Weiss, M.D.', 'role': 'CONTACT', 'email': 'rweiss@med.miami.edu', 'phone': '(305) 243-1944'}, {'name': 'Roy E Weiss, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'University of Miami, Miller School of Medicine', 'geoPoint': {'lat': 25.77427, 'lon': -80.19366}}], 'centralContacts': [{'name': 'Roy E Weiss, M.D.', 'role': 'CONTACT', 'email': 'rweiss@med.miami.edu', 'phone': '(305) 243-1944'}], 'overallOfficials': [{'name': 'Roy E Weiss, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Miami'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Roy E. Weiss, M.D.', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Roy E. Weiss, M.D.', 'investigatorAffiliation': 'University of Miami'}}}}