Ignite Creation Date:
2025-12-24 @ 7:12 PM
Ignite Modification Date:
2025-12-29 @ 5:06 PM
Study NCT ID:
NCT06774703
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-01-14
First Post:
2024-03-14
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Nemaline Myopathy Clinical Research Network (NM-CTRN)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D017696', 'term': 'Myopathies, Nemaline'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D009224', 'term': 'Myotonia Congenita'}], 'ancestors': [{'id': 'D020914', 'term': 'Myopathies, Structural, Congenital'}, {'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020967', 'term': 'Myotonic Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Plasma, serum and DNA samples will be retained. Exact amounts will depend on age of participant.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}, 'targetDuration': '3 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2029-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-08', 'studyFirstSubmitDate': '2024-03-14', 'studyFirstSubmitQcDate': '2025-01-08', 'lastUpdatePostDateStruct': {'date': '2025-01-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-01-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score', 'timeFrame': '36 months', 'description': "The AIMS is a standardized tool used to assess a child's gross motor development in four positions: prone, supine, sitting, and standing. Percentile scores are given from 0-100, with higher percentiles representing higher motor function."}, {'measure': "Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)", 'timeFrame': '36 months', 'description': "The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items."}, {'measure': 'Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)', 'timeFrame': '36 months', 'description': "This is a 37-item measure of infant developmental motor milestones divided into the following categories: neurological examination, developmental milestones and behavioral scale, and state of consciousness. Scores for individual categories will be combined into a composite score.This will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function."}, {'measure': 'Validate the change in 32-item Motor Function Measure (MFM32) Scale Score', 'timeFrame': '36 months', 'description': 'This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.'}, {'measure': 'Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score', 'timeFrame': '36 months', 'description': 'This is used to measure various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Age equivalents are indexes of relative standing that translate subtest raw scores into motor ages. Percentiles provide the examiner with an index that is easily understood. Subtest scaled scores are based on a distribution having a mean of 10 and a standard deviation of 3. Composite indexes are based on a distribution with a mean of 100 and a standard deviation of 15. Higher scores indicate higher level of function.'}, {'measure': 'Change in ambulation over 36 months as measured by the 10 meter walk (m/s).', 'timeFrame': '36 months', 'description': 'This test measures the time taken for a participant to walk 10 metres as quickly and safely as possible. This will be performed in ambulatory participants aged 2 years and older.'}, {'measure': 'Change in ambulation over 36 months as measured by the 6 Minute Walk Test', 'timeFrame': '36 months', 'description': 'This is a measure of how far a participant can walk along a track in 6 minutes. This will be performed in ambulatory participants aged 5 years and older.'}, {'measure': 'Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).', 'timeFrame': '36 months', 'description': 'This is a measure (% predicted) of the maximum amount of air that can be forcibly exhaled from your lungs after taking the deepest breath possible. This will be performed in participants aged 5 years and older.'}], 'secondaryOutcomes': [{'measure': 'Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound.', 'timeFrame': 'Baseline through month 36', 'description': 'This will be conducted in a subset of participants aged \\>5 years.'}, {'measure': 'Skin Biopsy (optional)', 'timeFrame': 'Baseline through month 36', 'description': 'This optional outcome measure involves a one-time removal of three to four 2mm pieces of skin from one body site.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Neuromuscular disease', 'Observational study', 'Congenital myopathy', 'Nemaline rod'], 'conditions': ['Nemaline Myopathy']}, 'descriptionModule': {'briefSummary': 'The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).', 'detailedDescription': "The long-term aim of this study is to incorporate these outcome measures into clinical trials for NM therapies. Outcome measures to be assessed will be dependent on the participant's age and functional status. Follow-up visits will be conducted either every 3 or 6 months, dependent on age, for a total of 3 years."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Participants will be identified through several sources. The primary source will be through our NM-CRN MDA care center network. Participants will also be recruited through the CMDIR and the Beggs Laboratory. Information regarding the study will be disseminated to all MDA clinics through the MDA website and via email to clinic directors. In addition, the study will advertised to families through A Foundation Building Strength, which maintains a patient information website and newsletter.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* 0-18 years of age at recruitment\n* Confirmation of Nemaline Myopathy (pathogenic or likely pathogenic mutations in ACTA1 (AD) or NEB (AR)\n* Patient and/or parent or legal guardian must be willing and able to provide informed consent\n\nExclusion Criteria:\n\n* Clinically significant medical finding on the physical examination, other than NM, that the Investigator deems unsuitable for participation in and/or completion of the study procedures\n* Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures. This will be subject to the clinical judgement of the Principal Investigator (PI)\n* Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded\n* Safety concerns'}, 'identificationModule': {'nctId': 'NCT06774703', 'briefTitle': 'Nemaline Myopathy Clinical Research Network (NM-CTRN)', 'organization': {'class': 'OTHER', 'fullName': 'Stanford University'}, 'officialTitle': 'Nemaline Myopathy Clinical Research Network (NM-CTRN)', 'orgStudyIdInfo': {'id': '72180'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Individuals with Nemaline Myopathy', 'description': 'All participants in the study will have a diagnosis of Nemaline Myopathy, with either a pathogenic or likely pathogenic mutation in ACTA1 (AD) or NEB (AR). Participants can be either ambulatory or non-ambulatory and must be between the ages of 0-18.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '94304', 'city': 'Palo Alto', 'state': 'California', 'country': 'United States', 'contacts': [{'name': 'Sarah Ismail, BSc', 'role': 'CONTACT', 'email': 'sismail@stanford.edu', 'phone': '650-460-4596'}, {'name': 'Carolina Tesi-Rocha, MD', 'role': 'CONTACT'}, {'name': 'Tina Duong, PhD, PT', 'role': 'CONTACT'}, {'name': 'John W Day, MD, PhD', 'role': 'CONTACT'}], 'facility': "Stanford University/Lucile Packard Children's Hospital", 'geoPoint': {'lat': 37.44188, 'lon': -122.14302}}, {'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'contacts': [{'name': 'Christopher Mendoza', 'role': 'CONTACT', 'email': 'christopher.mendoza2@nih.gov'}, {'name': 'Carsten Bonnemann, MD', 'role': 'CONTACT'}], 'facility': 'National Institute of Health', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'contacts': [{'name': 'Aleah Pagan, BA', 'role': 'CONTACT', 'email': 'aleah.pagan@childrens.harvard.edu', 'phone': '617-919-7498'}, {'name': 'Alan Beggs, PhD', 'role': 'CONTACT'}, {'name': 'Leslie Hayes, MD', 'role': 'CONTACT'}], 'facility': "Boston Children's Hospital", 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '38105', 'city': 'Memphis', 'state': 'Tennessee', 'country': 'United States', 'contacts': [{'name': 'Jean Laboe, MSN, RN', 'role': 'CONTACT', 'email': 'jean.laboe@stjude.org', 'phone': '901-595-1693'}, {'name': 'Richard Finkel, MD', 'role': 'CONTACT'}], 'facility': "St Jude Children's Research Hospital", 'geoPoint': {'lat': 35.14953, 'lon': -90.04898}}, {'zip': '75207', 'city': 'Dallas', 'state': 'Texas', 'country': 'United States', 'contacts': [{'name': 'Holly Lawrence, CCRC', 'role': 'CONTACT', 'email': 'holly.lawrence@utsouthwestern.edu', 'phone': '214-456-9561'}, {'name': 'Kaitlin Batley, MD', 'role': 'CONTACT'}], 'facility': "UT Southwestern Medical Centre/Children's Health Dallas", 'geoPoint': {'lat': 32.78306, 'lon': -96.80667}}, {'zip': 'M5G 1E8', 'city': 'Toronto', 'state': 'Ontario', 'country': 'Canada', 'contacts': [{'name': 'Ana Stosic, MSc', 'role': 'CONTACT', 'email': 'ana.stosic@sickkids.ca', 'phone': '416-648-6831'}, {'name': 'Jim Dowling, MD', 'role': 'CONTACT'}, {'name': 'Kimberley Amburgey, MSc', 'role': 'CONTACT'}], 'facility': 'The Hospital for Sick Children', 'geoPoint': {'lat': 43.70643, 'lon': -79.39864}}], 'centralContacts': [{'name': 'Carolina Tesi-Rocha, MD', 'role': 'CONTACT', 'email': 'ctesiroc@stanford.edu', 'phone': '650-723-0993'}, {'name': 'Sarah Ismail, BSc', 'role': 'CONTACT', 'email': 'sismail@stanford.edu', 'phone': '650-460-4596'}], 'overallOfficials': [{'name': 'Carolina Tesi-Rocha, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Stanford University'}, {'name': 'Tina Duong, PT, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Stanford University'}, {'name': 'John W Day, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Stanford University'}, {'name': 'Leslie Hayes, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Boston Children's Hospital"}, {'name': 'Alan Beggs, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Boston Children's Hospital"}, {'name': 'Jim Dowling, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'The Hospital for Sick Children'}, {'name': 'Richard Finkel, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "St Jude Children's Hospital"}, {'name': 'Carsten Bonnemann, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'National Institutes of Health (NIH)'}, {'name': 'Kaitlin Batley, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'UT Southwestern Medical Centre'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'YES'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Stanford University', 'class': 'OTHER'}, 'collaborators': [{'name': 'A Foundation Building Strength', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Clinical Professor', 'investigatorFullName': 'Carolina Tesi-Rocha', 'investigatorAffiliation': 'Stanford University'}}}}