Clinical trials: MMR Mutation
Cancer Gene Mutation, Lynch Syndrome
Lynch Syndrome Can be Diagnosed Just From Somatic Mismatch Repair Mutation
The objective of the study is the provide proof of high correlation between somatic and germline mismatch repair instability. This correlation is specifically researched in an area where patients have less access to cancer…
- Conditions
- Cancer Gene Mutation, Lynch Syndrome, Endometrial Cancer, Somatic Mutation
- Trial name
- NCT04516083
- Testing
- Mismatch repair instability somatic and germline testing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- RWJ Barnabas Health at Jersey City Medical Center
Day-3 Positive of Parasitaemia, Prevalence of Drug Resistance Gene Mutation
Molecular Assessment of Artemisinin Resistance Markers in Eastern and Western Border Areas of Myanmar
Artemisinin resistance have been documented in Myanmar and Myanmar artemisinin resistance containment measures have been launched since 2009-2010.
- Trial name
- NCT02198573
- Where
- Burma
- Volunteers
- 91 people
- Sponsor
- Myat Htut Nyunt
Neurofibromatosis Type 1
Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation
Frequency of constitutional mismatch-repair deficiency among suspected neurofibromatosis type 1 patients without a NF1 mutation Constitutional mismatch repair deficiency (CMMRD) is a rare inherited condition.
- Trial name
- CMMRD in NF1 (NCT03757247)
- Volunteers
- 670 people
- Sponsor
- Medical University Innsbruck
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health