MCT8 Deficiency Caregiver Study
NCT06060197 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 21
Last updated 2024-04-25
Summary
Caregivers face many responsibilities outside of their role as a friend or parent, which can lead to emotional, financial, social, and professional challenges. To better understand the impact of MCT8 deficiency on caregivers, Egetis Therapeutics are conducting an online survey for adult caregivers of persons living with the MCT8 deficiency.
Conditions
- Monocarboxylate Transporter 8 (MCT8) Deficiency
- Allan-Herndon-Dudley Syndrome
Sponsors & Collaborators
-
Vitaccess Ltd
collaborator INDUSTRY -
Rare Thyroid Therapeutics International AB
lead INDUSTRY
Principal Investigators
-
Mark Larkin, PhD · Vitaccess Limited
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2022-08-23
- Primary Completion
- 2024-04-12
- Completion
- 2024-04-12
Countries
- United Kingdom
Study Locations
More Related Trials
-
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia
NCT01108770 ·Status: COMPLETED
-
Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia
NCT05378932 ·Status: COMPLETED ·Phase: NA
-
A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by XLHED
NCT03912792 ·Status: WITHDRAWN
-
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
NCT01293565 ·Status: COMPLETED
-
Observational Study of Males With Creatine Transporter Deficiency
NCT02931682 ·Status: TERMINATED
-
Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype
NCT01398397 ·Status: COMPLETED
-
Study of Skeletal Disorders
NCT05031507 ·Status: RECRUITING
-
Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
NCT01109290 ·Status: COMPLETED
-
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
NCT01629940 ·Status: COMPLETED
-
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
NCT07096206 ·Status: ACTIVE_NOT_RECRUITING
-
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
NCT02099552 ·Status: COMPLETED
-
Pediatric Cardiomyopathy Mutation Analysis
NCT02432092 ·Status: RECRUITING
-
Phenotypic Properties in Individuals Affected With XLHED
NCT01871714 ·Status: COMPLETED
-
Nutritional Failure in Infants With Single Ventricle Congenital Heart Disease
NCT01821287 ·Status: COMPLETED
-
Relevant Outcome Measures for Creatine Transporter Deficiency Patient
NCT06018519 ·Status: RECRUITING ·Phase: NA
-
Desmopressin as a Therapy for Bedwetting in Children With Sickle Cell Disease
NCT02636387 ·Status: TERMINATED
-
Assessing the Effect of Patient Characteristics on Treatment Response in Primary Hyperhidrosis
NCT03694093 ·Status: COMPLETED
-
Multi-omics Study in Citrin Deficiency
NCT06895746 ·Status: ACTIVE_NOT_RECRUITING
-
Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
NCT02432079 ·Status: RECRUITING
-
Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
NCT01196182 ·Status: ACTIVE_NOT_RECRUITING
-
Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
NCT01308333 ·Status: COMPLETED
-
Heart and Skeletal Muscle Problems in Neuroacanthocytosis
NCT00007228 ·Status: COMPLETED
-
Clinical Biomarkers in Alpha-mannosidosis
NCT02141503 ·Status: COMPLETED
-
Association of Insulin Resistance and FGF21 on Cardiac Function in Pediatric Dilated Cardiomyopathy
NCT04222101 ·Status: TERMINATED ·Phase: NA
-
Desmopressin for Bedwetting in Children With SCD
NCT04420585 ·Status: TERMINATED ·Phase: PHASE4