Clinical trials: Mitochondrial DNA
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Lymphoblastic Leukemia in Children
Association Between Mitochondrial DNA Content and Risk of Acute Leukemia
Compelling epidemiological evidence indicates that alterations of mitochondrial DNA, including mutations and abnormal content of mitochondrial DNA (mtDNA), are associated with the initiation and development of acute lymphoblastic…
- Trial name
- NCT03595969
- Testing
- Relative copy number of mitochondrial DNA
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Air Force Military Medical University, China
Embryo Metabolic Activity
mtDNA and Embryo Metabolism
The present study has the objective to study whether the mitochondrial DNA copy number values that can be generated when human embryos are analyzed for chromosomal content before embryo transfer correlates with the actual number…
- Trial name
- NCT03206697
- Testing
- Mitochondrial DNA content and metabolic parameters
- Where
- Spain
- Volunteers
- 171 people, healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Endometriosis
Mitochondrial DNA Deletions in Plasma as a Diagnostic Aid for Females Presenting With Symptoms of Endometriosis
This study will investigate the clinical performance and diagnostic accuracy of the Mitomic® Endometriosis Test (MET) compared to laparoscopic diagnosis in a prospective clinical study in females presenting with symptoms…
- Trial name
- NCT06907550
- Testing
- The Mitomic Endometriosis Test (MET) blood test for early detection of endometriosis
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Pearsanta, Inc
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Type 2 Diabetes Mellitus
Mitochondrial DNA Copy Number and Leukocyte Telomere Length as Biomarkers in Type 2 Diabetic Patients
Type 2 diabetes mellitus, which is characterised by a combination of insulin resistance and insufficient insulin secretion is a major contributor to the burden of morbidity and mortality worldwide.
- Trial name
- NCT05684406
- Testing
- Genotyping
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Sohag University
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France