Clinical trials: Loss of Heterozygosity
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
POMC Deficiency Obesity, PCSK1 Deficiency Obesity
An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes
This is an observational study. There are no protocol-defined visits, although patients are expected to have routine office visits approximately every 6 months.
- Conditions
- POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NHS (NCT03621007)
- Where
- 3 sites in Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Osteosarcoma, Paget's Disease
Inheritance of Osteosarcoma & Paget's Disease Through Chromosome 18:
Researchers have previously demonstrated loss of heterozygosity in a region on chromosome 18q, associated with osteogenic sarcomas in bone affected by Paget's disease.
- Trial name
- NCT00615628
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- State University of New York - Upstate Medical University
Neurofibromatosis Type I, Tuberous Sclerosis Complex
The Cognitive Variability in NF1 and TSC Monozygotic Twins
Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation.
- Trial name
- COVANTT (NCT02436746)
- Where
- Netherlands
- Volunteers
- 116 people
- Sponsor
- Erasmus Medical Center
Leptin Receptor Deficiency Obesity
Setmelanotide for the Treatment of Leptin Receptor (LEPR) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with LEPR deficiency obesity due to rare bi-allelic or loss-of function mutations at the…
- Trial name
- NCT03287960
- Testing
- Setmelanotide
- Where
- 6 sites in Canada, France and 4 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Bladder Cancer
Cost-Effectiveness in Bladder Cancer
This randomized clinical multicentre trial aims to evaluate the efficacy of microsatellite analysis on voided urine to detect tumour recurrences in the follow-up of patients with superficial urothelialcell carcinoma (UCC).
- Trial name
- NCT00126958
- Testing
- urinary analysis
- Volunteers
- 500 people
- Sponsor
- Erasmus Medical Center
Pro-opiomelanocortin (POMC) Deficiency Obesity
Setmelanotide for the Treatment of Early-Onset Pro-Opiomelanocortin (POMC) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with pro-opiomelanocortin (POMC) deficiency or proprotein convertase subtilisin/kexin type…
- Trial name
- NCT02896192
- Testing
- Setmelanotide
- Where
- 7 sites in United States, Belgium and 5 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.