Clinical trials: Somatic Mutation
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Urticaria Pigmentosa, Cutaneous Mastocytosis
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell…
- Trial name
- NCT02761473
- Testing
- skin biopsy, blood draw
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
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
Leukemia
Biomarkers in Bone Marrow Samples From Patients With Acute Myeloid Leukemia
RATIONALE: Studying samples of bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01251159
- Testing
- mutation analysis, polymerase chain reaction, immunologic technique
- Volunteers
- 30 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
Desmoid, Desmoid Fibromatosis of Skin
Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis
In this study Drug-eluting microbeads (DEB) loaded with Doxorubicin will be delivered into the target Desmoid Fibromatoses (DF) tissue via selective arterial embolization by angiographic technique.
- Conditions
- Desmoid, Desmoid Fibromatosis of Skin, Desmoid Neoplasm of Chest Wall, Desmoid Tumor Caused by Somatic Mutation
- Trial name
- NCT03966742
- Testing
- Drug Eluting Bead Embolization (DEB) for Desmoid Fibromatosis
- Where
- Israel
- Volunteers
- 8 people
- Sponsor
- Rabin Medical Center
Hematologic Malignancy, Acute Leukemia
MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies.
- Conditions
- Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia
- Trial name
- NCT05735717
- Testing
- Fludarabine, Busulfan, Melphalan
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
Backtracking Leukemia-Typical Somatic Mutations in Cord Blood
A comprehensive mechanistic and epidemiological study to obtain banked cord blood samples from consecutive childhood leukemia patients enrolled in the COG Project:EveryChild (APEC14B1) study.
- Trial name
- NCT05014165
- Testing
- Cord blood Sample Collection, Case identification and recruitment, Questionnaire Administration
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Children's Oncology Group
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
Pediatric Central Nervous System Tumor, Central Nervous System Tumor
Somatic Mosaicism in Twins Discordant for Childhood Cancer
Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date.
- Conditions
- Pediatric Central Nervous System Tumor, Central Nervous System Tumor, Discordant Twin, Somatic Mutation
- Trial name
- NCT06054295
- Testing
- Biospecimen collection, Questionnaire Administration
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Hirschsprung Disease
Genetic Mosaicism in Hirschsprung's Disease
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon.
- Trial name
- NCT01927809
- Where
- 2 sites in Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center