Ignite Creation Date:
2025-12-25 @ 3:25 AM
Ignite Modification Date:
2025-12-26 @ 2:05 AM
Study NCT ID:
NCT05852405
Status:
COMPLETED
Last Update Posted:
2025-01-29
First Post:
2023-04-28
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000690', 'term': 'Amyotrophic Lateral Sclerosis'}, {'id': 'C566288', 'term': 'Frontotemporal Dementia With Motor Neuron Disease'}], 'ancestors': [{'id': 'D013118', 'term': 'Spinal Cord Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D016472', 'term': 'Motor Neuron Disease'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D057177', 'term': 'TDP-43 Proteinopathies'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2021-06-02', 'size': 652876, 'label': 'Study Protocol and Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'Prot_SAP_000.pdf', 'typeAbbrev': 'Prot_SAP', 'uploadDate': '2023-04-28T06:13', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood and serum'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 2000}, 'targetDuration': '6 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-08-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2024-12-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-01-28', 'studyFirstSubmitDate': '2023-04-28', 'studyFirstSubmitQcDate': '2023-05-02', 'lastUpdatePostDateStruct': {'date': '2025-01-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-05-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-12-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genetic variants in the genes of SOD1, C9orf72, FUS and TARDBP', 'timeFrame': '2 years', 'description': '• To identify the frequency of genetic variants in the genes of SOD1, C9orf72, FUS and TARDBP in patients with sALS and fALS'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['ID-ALS', 'ALSFRS-R-SE', 'ALSFRS-R', 'Neurofilament light chain NfL', 'APST Research', 'ALS-App', 'SOD1', 'C9orf72', 'FUS', 'TARDBP', 'Biomarker'], 'conditions': ['Motor Neuron Disease, Amyotrophic Lateral Sclerosis']}, 'descriptionModule': {'briefSummary': "Patients with sporadic ALS (sALS), which refers to those without a family history of ALS, are typically not subjected to genetic investigations as part of their standard care. Therefore, their mutation status is often unknown. Even patients with familial ALS (fALS), who have a known family history of ALS, are not regularly screened for genetic mutations. This project aims to study a large group of ALS patients, examining their family history, clinical characteristics, healthcare measures, and genetic variants in ALS's most commonly mutated genes: SOD1, C9orf72, FUS, and TARDBP. Examining genetically distinct ALS cohorts is significant, as understanding the relationship between genotype and disease progression is essential in determining the therapeutic potential of future genetic therapies.", 'detailedDescription': "Only limited data are available on the frequency of genetic variants in patients with sporadic ALS (sALS) and familial ALS (fALS). Genetic investigations do not belong to the standard of care in patients with sALS (patients without a family history of ALS). As a result, the patient's mutation status is commonly unknown. Even in patients with fALS (with a known family history of ALS), screening for genetic mutations is not performed regularly due to lacking treatment options in gene therapy. However, this paradigm is about to change as clinical trials on genetic medicines are ongoing and might result in the approval of new genetically investigated drugs. This project aims to explore a large cohort of ALS patients on family history, clinical characteristics, healthcare measures, and genetic variants in SOD1, C9orf72, FUS, and TARDBP - the most commonly mutated genes in ALS. This cohort study will allow us to determine the frequency of gene mutations in ALS patients in a real-world setting of ALS centers in Germany. Furthermore, the project shall enhance insights into potential differences between genetically defined cohorts using the course of the disease and the provision of health care measures. The investigation of genetically distinct ALS cohorts is particularly relevant, as an improved understanding of the relationship between the genotype and the journey of disease is scientifically indispensable to determine the therapeutic potential of future genetic therapies."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'The enrollment of subjects takes place in specialized ALS outpatient centers in Germany. ALS patients eligible for the investigation will be invited to participate in this cohort study. After obtaining informed consent, subjects will be enrolled in the study.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* ALS, including classical ALS, Progressive Muscle atrophy (PMA) or Primary Lateral Sclerosis (PLS)\n* Ability to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use protected health information (PHI) under national and local subject privacy regulations\n* Age of 18 years old at the time of informed consent\n\nExclusion Criteria:\n\n* Inability to provide patient directives about the notification of individual study results on genetic variants of SOD1, C9orf72, FUS and TARDBP\n* Inability to comply with study requirements\n* Unspecified reasons that, in the opinion of the site investigator, perceive the subject as unsuitable for enrollment'}, 'identificationModule': {'nctId': 'NCT05852405', 'acronym': 'ID-ALS', 'briefTitle': 'Clinical Characteristics, Natural History, Health Care Measures, and Genetic Screening in Patients With ALS', 'organization': {'class': 'INDUSTRY', 'fullName': 'Ambulanzpartner Soziotechnologie APST GmbH'}, 'officialTitle': 'Clinical Characteristics, Natural History, Health Care Measures, and the Frequency of Genetic Variants in the Genes of SOD1, C9orf72, FUS and TARDBP in Patients With Sporadic and Familial Amyotrophic Lateral Sclerosis (ALS)', 'orgStudyIdInfo': {'id': '400634'}}, 'contactsLocationsModule': {'locations': [{'zip': '13353', 'city': 'Berlin', 'country': 'Germany', 'facility': 'Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin', 'geoPoint': {'lat': 52.52437, 'lon': 13.41053}}], 'overallOfficials': [{'name': 'Thomas Meyer, Prof. Dr.', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Center for ALS and other motor neuron disorders, Charité - Universitätsmedizin Berlin'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Ambulanzpartner Soziotechnologie APST GmbH', 'class': 'INDUSTRY'}, 'collaborators': [{'name': 'Charite University, Berlin, Germany', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}