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Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Conditions
Mitochondrial Myopathies, Mitochondrial Pathology, Mitochondrial DNA Mutation, Mitochondrial Diseases, Mitochondrial DNA Deletion, Mitochondrial DNA Depletion, Mitochondrial Metabolism Defect, Mitochondrial Complex I Deficiency
Interventions
Elamipretide, Placebo
Drug
Lead sponsor
Stealth BioTherapeutics Inc.
Industry
Eligibility
18 Years to 70 Years
Enrollment
102 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
9
States / cities
San Diego, California • Atlanta, Georgia • Boston, Massachusetts + 6 more
Conditions
Mitochondrial DNA Depletion Syndrome 2 Myopathic Type, Thymidine Kinase 2 Deficiency
Interventions
Thymidine
Drug
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2026
U.S. locations
1
States / cities
New York, New York
Conditions
Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2026
U.S. locations
16
States / cities
San Diego, California • Stanford, California • Aurora, Colorado + 12 more