MEHMO Natural History and Biomarkers : Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Study Description: This is a prospective natural history study of individuals who have MEHMO syndrome or eIF2-pathway related conditions, or who are carriers of EIF2S3-related conditions to generate hypotheses for further understanding of disease pathophysiology, diagnosis, prognosis, management, and treatment. The protocol aims to enroll and follow affected or carrier individuals longitudinally to establish a repository of concurrent evaluations and biomaterials, as well as to enroll unaffected individuals for collection of informative comparable data and samples.Objectives:Primary Objective:Characterize the presentation of MEHMO syndrome and eIF2 pathway related conditions.Secondary Objectives:Identify disease-reflective fluid biomarkersDevelop a disease severity rating scale or classification algorithmAssess tolerability and feasibility of study evaluationsEstablish a repository of participant data and samples for future researchEndpoints:Primary Endpoint:Frequency and time-to-event of signs and symptoms.Secondary Endpoints:Mean difference of candidate fluid biomarkers level in affected versus carrier versus unaffected individualsCorrelation of rating scale or classification algorithm to age, genotype, or other variablesFrequency of completed evaluations and reasons for NoncompletionStudy Population: 25 affected individuals 1-week of age or older 25 EIF2S3-variant carrier individuals 1-month of age or older 50 unaffected individuals 1 month of age or older of any sex, race, ethnicity, geographic location who can participate without increased risk to personal health..
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Klinische Studie| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
ClinicalTrials.gov - (2024) vom: 02. Apr. Zur Gesamtaufnahme - year:2024 |
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| Sprache: |
Englisch |
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| Links: |
Volltext [kostenfrei] |
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| Themen: |
610 |
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| Anmerkungen: |
Source: Link to the current ClinicalTrials.gov record., First posted: August 31, 2023, Last downloaded: ClinicalTrials.gov processed this data on April 03, 2024, Last updated: April 03, 2024 |
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| Study ID: |
NCT06019182 |
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| Veröffentlichungen zur Studie: |
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| PPN (Katalog-ID): |
CTG00001575X |
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| 520 | |a Study Description: This is a prospective natural history study of individuals who have MEHMO syndrome or eIF2-pathway related conditions, or who are carriers of EIF2S3-related conditions to generate hypotheses for further understanding of disease pathophysiology, diagnosis, prognosis, management, and treatment. The protocol aims to enroll and follow affected or carrier individuals longitudinally to establish a repository of concurrent evaluations and biomaterials, as well as to enroll unaffected individuals for collection of informative comparable data and samples.Objectives:Primary Objective:Characterize the presentation of MEHMO syndrome and eIF2 pathway related conditions.Secondary Objectives:Identify disease-reflective fluid biomarkersDevelop a disease severity rating scale or classification algorithmAssess tolerability and feasibility of study evaluationsEstablish a repository of participant data and samples for future researchEndpoints:Primary Endpoint:Frequency and time-to-event of signs and symptoms.Secondary Endpoints:Mean difference of candidate fluid biomarkers level in affected versus carrier versus unaffected individualsCorrelation of rating scale or classification algorithm to age, genotype, or other variablesFrequency of completed evaluations and reasons for NoncompletionStudy Population: 25 affected individuals 1-week of age or older 25 EIF2S3-variant carrier individuals 1-month of age or older 50 unaffected individuals 1 month of age or older of any sex, race, ethnicity, geographic location who can participate without increased risk to personal health. | ||
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| 650 | 2 | |a Intellectual Disability | |
| 650 | 2 | |a Nervous System Malformations | |
| 650 | 2 | |a Hypogonadism | |
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