Clinical trials: Hereditary Cancer, active
Haemophilia A (Moderate or Severe), Hemophilia, Classic
A Study to Investigate the Course of Synovial Hypertrophy in Patients With Haemophilia A on Efanesoctocog Alfa Prophylaxis
The rationale for conducting this open-label phase 4 study is to assess whether once-weekly prophylaxis with efanesoctocog alfa (50 IU/kg) improves the disease course of existing synovial hypertrophy and prevents the risk of…
- Conditions
- Haemophilia A (Moderate or Severe), Hemophilia, Classic, Haemophilia, Hemophilia
- Trial name
- NCT06752850
- Testing
- Efanesoctocog alfa
- Where
- 10 sites in Italy, Norway and 2 more
- Volunteers
- 37 people
- Sponsor
- Swedish Orphan Biovitrum
Pancreas Cancer, Pancreatitis
Pancreas Registry and High Risk Registry
The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of…
- Conditions
- Pancreas Cancer, Pancreatitis, Chronic Pancreatitis, Pancreatic Cyst
- Trial name
- NCT02775461
- Where
- 2 sites in United States
- Volunteers
- 1,368 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Sezary Syndrome, Ichthyosis, Lamellar
Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
Autosomal recessive congenital ichthyoses (ARCI) are monogenic diseases of cornification that correspond to a diffuse abnormality (affecting the entire integument) of epidermal differentiation and therefore of the skin barrier.
- Trial name
- NIPALYMPHO (NCT07477769)
- Testing
- blood sampling
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Colorectal Cancer
FITting Non-invasive Tests in Lynch Syndrome Surveillance
The purpose of this clinical study is to evaluate the accuracy of the fecal immunochemical test (FIT) in comparison to colonoscopy in patients with Lynch Syndrome (LS) who are undergoing colonoscopy surveillance.
- Trial name
- NCT06898996
- Testing
- Fecal immunochemical test
- Where
- 3 sites in United States
- Volunteers
- 400 people
- Sponsor
- University of Chicago
Epstein-Barr Virus Infections, Primary Immune Deficiency Disorder
EBV-specific Cytotoxic T-lymphocytes (CTLs) for Refractory EBV Infection
Related donor Epstein-Barr Virus (EBV) specific cytotoxic T cells (CTLs) manufactured with the Miltenyi CliniMACS Prodigy Cytokine Capture System will be administered in children, adolescents and young adults with refractory EBV…
- Trial name
- NCT03266653
- Testing
- cytotoxic t-lymphocytes
- Where
- 8 sites in United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Neurofibromas, Cutaneous, Neurofibromatosis 1
Assessing the Efficacy of Repeat, Monthly Treatments of Deoxycholate for NF1 Associated Cutaneous Neurofibromas (cNFs)
The goal of this clinical trial is to evaluate the tolerability and effectiveness of multiple treatments of an FDA-approved drug in those with Neurofibromatosis Type 1 (NF1) Cutaneous Neurofibromas (cNFs).
- Trial name
- NCT06300502
- Testing
- Kybella
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Massachusetts General Hospital
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
MPNST, NF1
Trial of Selumetinib and Bromodomain Inhibitor With Durvalumab for Sarcomas
A multi-institutional open-label phase 1/2 trial of selumetinib in combination with ZEN-3694 and durvalumab in refractory/unresectable sarcomas including MPNST.
- Conditions
- MPNST, NF1, Sarcoma
- Trial name
- NCT05253131
- Testing
- Selumetinib + ZEN-3694 ± Durvalumab
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- University of Alabama at Birmingham
Colorectal Adenomatous Polyp, Colorectal Carcinoma
Testing for Safety and Colorectal Cancer Preventive Effects of ONC201
The purpose of this phase I trial is to test the safety and cancer preventive effects of different doses of ONC201 in people with familial adenomatous polyposis (FAP) or a history of multiple polyps.
- Conditions
- Colorectal Adenomatous Polyp, Colorectal Carcinoma, Familial Adenomatous Polyposis, Multiple Adenomatous Polyps
- Trial name
- NCT05630794
- Testing
- Biopsy Procedure, Biospecimen Collection, Colonoscopy
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- National Cancer Institute (NCI)
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
This phase I/II trial studies the side effects and the best dose of selumetinib and how well it works in treating or re-treating young patients with low grade glioma that has come back (recurrent) or does not respond to treatment…
- Conditions
- Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma, Recurrent Neurofibromatosis Type 1, Recurrent Visual Pathway Glioma
- Trial name
- NCT01089101
- Testing
- Biospecimen Collection, Selumetinib
- Where
- 17 sites in United States
- Volunteers
- 217 people
- Sponsor
- National Cancer Institute (NCI)
Lynch Syndrome, Li Fraumeni Syndrome
Video Capsule Examination in Patients With Lynch Syndrome
Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years.
- Conditions
- Lynch Syndrome, Li Fraumeni Syndrome, PTEN Hamartoma Syndrome, FAP
- Trial name
- PILLCAM (NCT06712095)
- Testing
- Video capsule investigation
- Where
- United Kingdom
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Basal Cell Carcinoma, Locally Advanced Basal Cell Carcinoma
Oral Hedgehog Inhibitors in the Treatment of Basal Cell Carcinoma in the Netherlands: a Prospective Registration Study
Background: Oral hedgehog inhibitors vismodegib and sonidegib have been used for the treatment of locally advanced (laBCC), metastatic basal cell carcinoma (mBCC) and in basal cell nevus syndrome (BCNS) patients.
- Conditions
- Basal Cell Carcinoma, Locally Advanced Basal Cell Carcinoma, Metastatic Basal Cell Carcinoma, Gorlin Syndrome
- Trial name
- NCT05463757
- Testing
- Vismodegib, Sonidegib
- Where
- 8 sites in Netherlands
- Volunteers
- 80 people
- Sponsor
- Maastricht University Medical Center
BRCA Hereditary Ovarian Carcinoma, Fallopian Tube High Grade Serous Adenocarcinoma
Uterine Lavage to Detect Ovarian Cancer Risk
This clinical trial develops a non-surgical approach using uterine lavage samples to screen for progression to ovarian cancer in high-risk patients carrying BRCA mutations.
- Conditions
- BRCA Hereditary Ovarian Carcinoma, Fallopian Tube High Grade Serous Adenocarcinoma, Ovarian High Grade Serous Adenocarcinoma, Primary Peritoneal High Grade Serous Adenocarcinoma
- Trial name
- NCT07772869
- Testing
- Uterine Lavage, Archive Sample, Survey Administration
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- University of Washington
Tuberous Sclerosis, Lymphangioleiomyomatosis
TSC Biosample Repository and Natural History Database
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.
- Trial name
- NCT05676099
- Testing
- Phlebotomy, Buccal (cheek) swab, Genetic Testing
- Where
- 26 sites in United States, Canada
- Volunteers
- 5,000 people
- Sponsor
- National Tuberous Sclerosis Association
Chronic Pelvic Pain Syndrome (CPPS), Radiation-Induced Disorder
Gene and Molecular Pathways of Ozone Treatment Response in Gynecological Tumor Patients With Chronic Pelvic Pain Secondary to Cancer Treatment
Gynecological cancers, including those affecting the ovaries, uterus, and cervix, represent a significant health burden for women.
- Conditions
- Chronic Pelvic Pain Syndrome (CPPS), Radiation-Induced Disorder, Radiotherapy Side Effects, Side Effect of Chemotherapy
- Trial name
- OzoGynEpigen (NCT06816095)
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- Bernardino Clavo, MD, PhD
Cardiovascular Abnormalities, Arterial Blood Pressure
Multicenter Study on Cardiovascular and Metabolic Complications in Patients With Biochemically Silent Pheochromocytomas and Paragangliomas
The aim of the study is to characterise the cardiovascular and metabolic complications pre- and post-surgery of patients with biochemically negative PPGL and to compare them with normal individuals and patients with secreting…
- Conditions
- Cardiovascular Abnormalities, Arterial Blood Pressure, Heart Rate, Congestive Heart Failure Chronic
- Trial name
- NCT07316075
- Where
- Greece
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Laikο General Hospital, Athens
Lynch Syndrome
CAD-EYE System for the Detection of Neoplastic Lesions in Patients With Lynch Syndrome
Lynch syndrome (LS) is the most common genetic predisposition syndrome for colorectal cancer (CRC), responsible for around 2-4% of cancers.
- Trial name
- CADLYNCH (NCT05963191)
- Testing
- Colorectal cancer screening with CAD EYE colonoscopy
- Where
- France
- Volunteers
- 272 people
- Sponsor
- PERROD Guillaume
Neurofibromatosis 1
Tailoring an Online Platform to Promote Evidence-Based Care for Adults With Neurofibromatosis 1 and Low Health Literacy
This decentralized, randomized study seeks to assess the feasibility, acceptability, and preliminary effectiveness of two approaches to assisting Neurofibromatosis 1 (NF1) patients with low health literacy improve their…
- Trial name
- NCT07233408
- Testing
- NF1 Educational Videos, Peer Navigator, Letters about NF1 Care
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Hypothalamic Obesity, Hypothalamic Tumor
Efficacy and Safety of Phentermine/Topiramate in Youth With Hypothalamic Obesity
Hypothalamic obesity (HO) refers to the substantial weight gain that often complicates hypothalamic brain tumors. Children with this treatment-recalcitrant form of obesity have excess rates of metabolic sequelae compared to…
- Conditions
- Hypothalamic Obesity, Hypothalamic Tumor, Craniopharyngioma
- Trial name
- NCT06299891
- Testing
- Phentermine / Topiramate Extended Release Oral Capsule [Qsymia]
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Seattle Children's Hospital