Clinical trials: Rare Disorders, active
Urachal Cancer, Advanced Solid Tumor Cancer
Trastuzumab Rezetecan in Advanced Solid Tumors Refractory to Standard Therapies
This study is a single-center, multi-cohort, phase II clinical trial. Eligible patients with HER2-positive advanced solid tumors were enrolled after providing informed consent.
- Conditions
- Urachal Cancer, Advanced Solid Tumor Cancer, Antibody-drug Conjugates
- Trial name
- NCT07309770
- Testing
- SHR-A1811, Trastuzumab Rezetecan
- Where
- China
- Volunteers
- 90 people
- Sponsor
- Sheng Zhang
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Genetic of Intellectual Deficiency, Autism Spectrum Disorder
Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA)
The aim of this observational study is to develop an alternative database model for genetically originated intellectual disabilities.
- Trial name
- RaDiCo-GenIDA (NCT06871696)
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Huntington Disease
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Trial name
- NCT06826612
- Testing
- SPK-10001
- Where
- 5 sites in United States
- Volunteers
- 53 people
- Sponsor
- Hoffmann-La Roche
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Non-Small-Cell Lung Cancer, Metastatic Non-Small-Cell Lung Cancer
Study to Evaluate Efficacy and Safety of Firmonertinib Compared With Investigator's Choice of EGFR Inhibitor as First-Line Treatment in Participants Who Have Locally Advanced or Metastatic NSCLC With EGFR P-Loop and Alpha C-Helix Compressing (PACC) Uncommon Mutations
Global, Phase 3, randomized, multicenter, open-label study evaluating the efficacy and safety of firmonertinib at a dose level of 240 mg QD compared to investigator's choice of osimertinib (80 mg QD) or afatinib (40 mg QD) in…
- Conditions
- Non-Small-Cell Lung Cancer, Metastatic Non-Small-Cell Lung Cancer, Advanced Non-Small-Cell Lung Cancer, EGFR P-Loop and Alpha C-Helix Compressing
- Trial name
- NCT07185997
- Testing
- Firmonertinib, EGFR-TKI inhibitor based on investigator's choice
- Where
- 141 sites in United States, Australia and 15 more
- Volunteers
- 480 people
- Sponsor
- ArriVent BioPharma, Inc.
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
This clinical trial is looking at two drugs called dabrafenib and trametinib. Dabrafenib and trametinib are approved as standard of care treatment for adult patients with melanoma (a type of skin cancer) or lung cancer and in…
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT07440290)
- Testing
- Dabrafenib, Trametinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Appendix Cancer, Pseudomyxoma Peritonei
The Appendix Cancer PMP Research Foundation Natural History Study/Patient Registry
ACPMP's first-ever patient-powered global patient registry/natural history study collects patient and caregiver information and data to fuel clinical trials and drive breakthroughs for appendix cancer and PMP.
- Trial name
- NCT07769346
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Appendix Cancer Pseudomyxoma Peritonei Research Foundation
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
Familial Chylomicronemia Syndrome (FCS)
CS-121 APOC3 Base Editing in FCS
This is an open-label, single-arm, dose-escalation Phase I clinical trial to evaluate the safety, tolerability, pharmacodynamics (PD), and pharmacokinetics (PK) of CS-121, an in vivo base editing therapy delivered by lipid…
- Trial name
- NCT07176923
- Testing
- CS-121
- Where
- China
- Volunteers
- 15 people
- Sponsor
- CorrectSequence Therapeutics Co., Ltd
Leukemia, Other
Hairy Cell Leukemia Patient Data Registry
The overall objective is to develop a clinical data registry that can be used to facilitate research with the ultimate goal of reducing the morbidity and/or mortality and improving the quality of life of patients diagnosed or…
- Trial name
- HCL-PDR (NCT02560883)
- Where
- 8 sites in United States, Australia and 1 more
- Volunteers
- 5,000 people
- Sponsor
- Ohio State University Comprehensive Cancer Center
Inflammatory Arthritis, Rare Auto-immune Diseases
Understanding of Rare Inflammatory Arthritis in Comparison to Classical Inflammatory Arthritis : Tissular Observations and Immune Infiltrate Characterization : the UTOPIC Project
The pathophysiology of certain inflammatory arthritides remains poorly understood, particularly when associated with rare systemic autoimmune diseases such as systemic sclerosis (SSc), or when emerging in the context of…
- Conditions
- Inflammatory Arthritis, Rare Auto-immune Diseases, Immune Checkpoint Inhibitor Related Inflamamtory Arthritis
- Trial name
- UTOPIC (NCT07302074)
- Testing
- Biopsy
- Where
- 2 sites in France
- Volunteers
- 100 people
- Sponsor
- University Hospital, Brest
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Squamous Cell Carcinoma of the Penis, Usual Type
International Penile Advanced Cancer Trial (International Rare Cancers Initiative Study)
This is an international phase III trial, with a Bayesian design, incorporating two sequential randomisations. It efficiently examines a series of questions that routinely arise in the sequencing of treatment.
- Trial name
- InPACT (NCT02305654)
- Testing
- ILND - Inguinal Lymph Node Dissection, Paclitaxel, Ifosfamide
- Where
- 17 sites in United States, United Kingdom
- Volunteers
- 200 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Endocrine Disorder, Rare Disorders
Transition of Care in Pediatric Rare Endocrine Disorders
This study will evaluate the transition from pediatric to adult care in patients with pediatric-onset rare endocrine disorders. The study includes three components: a review of medical records to assess previous transition…
- Trial name
- TRANSPIRE (NCT07786142)
- Testing
- Structured Transition-of-Care Program
- Where
- 11 sites in South Korea
- Volunteers
- 150 people
- Sponsor
- Seoul National University Hospital
Lung Cancer (NSCLC), Lung Cancer (SCLC)
Pragmatic Analysis of Complex Radiotherapy Cases In Cancer of the Lung
This study focuses on improving care for people with lung cancer who face unusual or complex treatment situations.
- Trial name
- PRACTICAL (NCT07202260)
- Where
- United Kingdom
- Volunteers
- 80 people
- Sponsor
- The Christie NHS Foundation Trust
Rare Diseases, Congenital Diaphragmatic Hernia
Intact Cord Resuscitation in CDH
Isolated CDH is a rare disease (1/3500) and displays a wide range of severity and outcome. Despite attempts to standardize the management of this disease at birth and during the first months of life, the mortality varies from 20…
- Trial name
- CHIC (NCT04429750)
- Testing
- Immediate umbilical cord clamping, intact cord resuscitation
- Where
- 3 sites in France
- Volunteers
- 180 people
- Sponsor
- University Hospital, Lille
Chronic Kidney Diseases
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
Chronic kidney disease (CKD) affects about 10% of the world population, with high morbidity and mortality. Genetic kidney diseases are increasingly recognized across all age groups and represent over 20% of all the causes of CKD.
- Trial name
- NCT06324136
- Testing
- Implementation of the diagnostic algorithm
- Where
- 3 sites in Italy
- Volunteers
- 300 people
- Sponsor
- Meyer Children's Hospital IRCCS