Clinical trials: Rare Cancer
Cognitive Burden, Cognitive Symptom
Evaluation of Impact of AI Assistance on Workload Associated w Preparation of Rare Tumor Case Repts
The goal of this study is to explore cognitive burden perceptions among physicians in relation to case report writing. Furthermore, this study evaluates the use of artificial intelligence (AI) assistance as a tool to reduce…
- Trial name
- NCT06026098
- Testing
- Artificial Intelligence
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Inherited Hematological Diseases, Rare Diseases
Longitudinal Studies of Patient With FPDMM
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1.
- Conditions
- Inherited Hematological Diseases, Rare Diseases, FPDMM
- Trial name
- NCT03854318
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hereditary Multiple Osteochondromas
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and…
- Trial name
- MAMBO (NCT06703736)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder
The Longitudinal CONQUER Study of Rare Neuroimmunologic Disorders
This study seeks to determine the biologic causes of inflammation in patients with Transverse Myelitis (TM) Neuromyelitis Optica Spectrum Disorder (NMOSD) and related conditions.
- Conditions
- Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis
- Trial name
- NCT01623076
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Malignant Solid Tumors, Other Neoplasms Solid Tumors
Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors
Background: Approximately 150 cases of cancer per one million per year are considered rare cancers. While all tumors originate from genetic changes, a small percentage of these tumors are familial.
- Conditions
- Malignant Solid Tumors, Other Neoplasms Solid Tumors, Pediatric Solid Tumor, Refractory Solid Tumors
- Trial name
- NCT03739827
- Where
- 3 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
Stenosis, Histiocytoma
Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone. II. Determine the clinical manifestations of this disease in these patients.
- Trial name
- NCT00007046
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Urologic Diseases, Male Infertility
Protocol N. 2014 - Observational Study on the Quality of Life of Outpatients
Prospective observational study on the quality of life of patients attending general urology, sexual medicine, reproductive medicine, functional urology, neuro-urology and uro-oncology clinics.The data relating to the clinical…
- Conditions
- Urologic Diseases, Male Infertility, Sexual Medicine
- Trial name
- NCT06193850
- Testing
- Observation during time
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
CADASIL, Cavernous Angioma
Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005.
- Conditions
- CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease
- Trial name
- B-MRVC2 (NCT07650110)
- Testing
- Biocollection, Neurological evaluation and Biocollection
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cancer, Hereditary Neoplasms
Rare Tumors and Cancer Predisposition in Individuals and Families
Background: Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in.
- Conditions
- Cancer, Hereditary Neoplasms, Genetic Predisposition to Cancer, Environment
- Trial name
- NCT05350761
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Quality of Life, Cognitive Impairment
Long Term Implications of Rare Brain Tumours'
Patients diagnosed with oligodendroglioma with a specific molecular profile represent rare tumour groups (about 10% of adult gliomas) with relatively favourable prognosis (median survival between 8 and 12 years).
- Conditions
- Quality of Life, Cognitive Impairment, WHO Grade II Oligodendroglial Tumor, WHO Grade III Oligodendroglial Tumor
- Trial name
- NCT04708548
- Testing
- Health-related Quality of Life, Psychological Distress, Fatigue
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 267 people, healthy volunteers welcome
- Sponsor
- Galina Velikova
Germ Cell Tumor, Sex Cord Stromal Tumor
Living After a Rare Cancer of the Ovary: Chronic Fatigue, Quality of Life and Late Effects of Chemotherapy
While they are documented in patients in remission of testicular cancer, the sequelae of chemotherapy and the impact of the disease and its treatments on the living conditions and QoL of women in remission of rare ovarian cancer…
- Conditions
- Germ Cell Tumor, Sex Cord Stromal Tumor, Malignant Non-epithelial Ovarian Tumors
- Trial name
- VIVROVAIRE TR (NCT03418844)
- Testing
- Self-questionnaires of living conditions and quality of life, Cardiac, pulmonary, auditory and biological assessment
- Where
- 19 sites in France
- Volunteers
- 268 people, healthy volunteers welcome
- Sponsor
- Centre Francois Baclesse
Myopericytoma
MIYOPERİCYTOMA OF ORAL MUCOSE: CASE REPORT
Miyopericytoma (MPC) is defined as a benign tumor consisting mostly of oval-spindle-shaped myoid-appearing cells with perivascular growth.
- Trial name
- NCT05126420
- Testing
- biopsy
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Ankara University