Clinical trials: Rare Disorders, open to volunteers
Amyotrophic Lateral Sclerosis
RAPA-501 Therapy for ALS
RAPA-501-ALS is a phase 2/3 expansion cohort study of RAPA-501 autologous hybrid TREG/Th2 cells in patients living with amyotrophic lateral sclerosis (pwALS).
- Trial name
- NCT04220190
- Testing
- RAPA-501 Autologous T stem cells
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Rapa Therapeutics LLC
Dysmorphia, Orphan Diseases
Automatic Phenotyping of Patients on 2D Photography
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Trial name
- AIDY2 (NCT06219421)
- Testing
- Clinical data reuse
- Where
- France
- Volunteers
- 22,000 people
- Sponsor
- Imagine Institute
ANCA-associated Vasculitis
Biocollection of Patients With ANCA Associated Vasculitis
As rare disease, vasculitis affects a small number of patients, the cohorts available in the literature are few and the pathophysiological mechanisms remain to be elucidated.
- Trial name
- ANCA (NCT05364892)
- Testing
- Blood samples (80 mL), Fecal samples, Urinary sample (20-40 mL)
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Rare Disorders, Rare Diseases
AI-assisted Rare Disease Diagnosis
A multicentre randomised controlled trial evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected…
- Trial name
- NCT07650799
- Testing
- AI system
- Where
- 12 sites in China
- Volunteers
- 1,056 people
- Sponsor
- Peking Union Medical College Hospital
Lung Cancer Stage III, Mutation
Neoadjuvant Umbrella Trial for Patients With Unresectable Stage III NSCLC Harboring Rare Mutations.
This umbrella trial directed by next generation sequencing (NGS) includes patients with treatment-naive unresectable stage III non-small-cell lung cancer (NSCLC).
- Trial name
- NUMER (NCT06563999)
- Testing
- Sunvozertinib, Crizotinib, Pralsetinib
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Sun Yat-sen University
Paraganglioma/ Phaeochromocytoma, Melanoma and Other Malignant Neoplasms of Skin
An International Study on Pediatric Patients With Rare Tumors.
The PARTNER study is an international, prospective, observational study of paediatric patients with very rare tumours.
- Conditions
- Paraganglioma/ Phaeochromocytoma, Melanoma and Other Malignant Neoplasms of Skin, Gastrointestinal Stromal Tumor (GIST), Adrenocortical Tumor
- Trial name
- PARTNER (NCT07072143)
- Where
- Italy
- Volunteers
- 6,250 people
- Sponsor
- Azienda Ospedaliera di Padova
Cancer, Oncology
Longitudinal Registry Including Patients Treated With Heavy Particles
The purpose of this registry is to collect retrospective and prospective standardized data of patients treated with particle therapy, either with protons or carbon ions, at the National Center for Oncological Hadrontherapy (CNAO)…
- Conditions
- Cancer, Oncology, Radiation Exposure, Radiotherapy Side Effect
- Trial name
- NCT05203250
- Testing
- Heavy-ion therapy (hadrontherapy)
- Where
- Italy
- Volunteers
- 3,000 people
- Sponsor
- CNAO National Center of Oncological Hadrontherapy
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Primary Mitochondrial Diseases
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes.
- Trial name
- NCT06474104
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Minovia Therapeutics Ltd.
Brain (Nervous System) Cancers, Glioblastoma
Pharmacoscopy for Patients With Refractory Primary Brain Tumors
Advanced technology of ex vivo drug profiling referred to as pharmacoscopy may allow to identify novel drugs for the treatment of glioblastoma and other refractory brain tumors at an individual patient level.
- Conditions
- Brain (Nervous System) Cancers, Glioblastoma, Glioma, Ependymoma
- Trial name
- EViDENCE-BT (NCT06804655)
- Testing
- Pharmacoscopy 1.0
- Where
- 3 sites in Switzerland
- Volunteers
- 40 people
- Sponsor
- University of Zurich
CHAPLE Disease
A Study to Test the Safety of Pozelimab in Pediatric Participants 1 to 5 Years of Age With a Rare Disease Called CHAPLE (Complement Hyperactivation, Angiopathic Thrombosis, Protein-losing Enteropathy) Disease
This study is researching a drug called pozelimab (called "study drug"). The main aim of this study is to monitor the safety and tolerability of the study drug.
- Trial name
- NCT07142343
- Testing
- Pozelimab
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Regeneron Pharmaceuticals
Undiagnosed Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cystic Fibrosis
Rare CFTR Mutation Cell Collection Protocol (RARE)
Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF).
- Trial name
- RARE (NCT03161808)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- George Solomon
Non-small Cell Lung Cancer
Survival Outcome of EGFR-TKI in Uncommon EGFR Mutant Advanced NSCLC
This study aims to explore Survival Outcome of EGFR-TKI in Uncommon EGFR Mutant Advanced Non-small Cell Lung Cancer in China
- Trial name
- NCT04324164
- Testing
- Third-generation EGFR-TKI, EGFR-TKI
- Where
- China
- Volunteers
- 800 people
- Sponsor
- Hunan Province Tumor Hospital
Rare Genetic Disorders, Quality of Life
The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders
This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders.
- Conditions
- Rare Genetic Disorders, Quality of Life, Functional Impairment
- Trial name
- NCT07348926
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Factor X Deficiency
A Database For The Collection Of Clinical, Laboratory, And Treatment Data From Patients With Factor X Deficiency To Define The Natural History Of The Disease And Improve Patient Management
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms.
- Trial name
- PRO-RBDD-FX (NCT07875478)
- Where
- 2 sites in Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Fondazione Luigi Villa
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Hepatocholangiocarcinoma, Fibrolamellar Carcinoma
A French Multicenter Observational Retrospective Study of Rare Primary Liver Cancers
The aim of this French multicenter retrospective study is to describ rare primary hepatic cancers clinical, histological and radiological features, to obtain a biological tumor and blood collection, and to evaluate the efficacy…
- Conditions
- Hepatocholangiocarcinoma, Fibrolamellar Carcinoma, Hepatic Epithelioid Hemangioendothelioma, Hepatoblastoma
- Trial name
- FFCD-2205 (NCT06541652)
- Where
- 40 sites in France
- Volunteers
- 150 people
- Sponsor
- Federation Francophone de Cancerologie Digestive
Glioma, Glioneuronal Tumor
Observational Study for Assessing Treatment and Outcome of Patients With Primary Brain Tumours Using cIMPACT-NOW and 2021 WHO Classification
Every new classification depends on its prognostic power and on the type of treatment given. With the rapid evolution of diagnostic methods and the advance in new treatments, there is much less reliable information available on…
- Conditions
- Glioma, Glioneuronal Tumor, Choroid Plexus Tumor, Pineal Tumors
- Trial name
- NCT05259605
- Testing
- Observational
- Where
- 42 sites in Austria, Belgium and 10 more
- Volunteers
- 1,650 people
- Sponsor
- European Organisation for Research and Treatment of Cancer - EORTC