A Study of Clinical Symptoms in PMM2 Patients Affected by mtDNA Variants and Haplotypes
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 19-004767
Sponsor Protocol Number: 19-004767
About this study
The purpose of this study is to to investigate if variable phenotypic expression, with the same genotype, could be explained by mtDNA haplotype variations.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
- Patients with a compound heterozygous ARG141HIS + PHE119LEU PMM2-CDG mutation.
- Patients with the haplogroup H, J and K mtDNA
Exclusion Criteria:
- Patients with CDG mutations other than ARG141HIS + PHE119LEU PMM2-CDG.
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
| Mayo Clinic Location |
Status |
|
Rochester, Minn.
Mayo Clinic principal investigator Eva Morava-Kozicz, M.D., Ph.D. |
Closed for enrollment |
|
More information
Publications
Publications are currently not available