Clinical trials: Rare Diseases, open to volunteers
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
Advanced or Metastatic NSCLC Harboring Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion (ex20ins) Mutations
A Study of Zipalertinib in Patients With Advanced Non-Small Cell Lung Cancer With Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertions or Other Uncommon Mutation.
The purpose of this study is to evaluate the safety, efficacy and pharmacokinetics (PK) of zipalertinib in participants with locally advanced or metastatic Non-Small Cell Lung Cancer (NSCLC) harboring EGFR ex20ins mutations and…
- Trial name
- REZILIENT2 (NCT05967689)
- Testing
- TAS6417, CYP Cocktail, Transporter Cocktail
- Where
- 80 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- Taiho Oncology, Inc.
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
Dyslipidemia, Atherosclerosis
Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
Background: The right amount of fats in the blood (cholesterol and triglycerides) are a key part of a healthy organism. Too much or too little of these fats may manifest as diseases (dyslipidemia).
- Trial name
- NCT06676046
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Homozygous Familial Hypercholesterolemia (HoFH), Coronary Computed Tomography Angiography
Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
This observational, multicenter, retrospective and prospective study aims to evaluate the impact of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerotic plaque burden in patients with Homozygous…
- Trial name
- EVOLVE-HoFH (NCT07447648)
- Where
- 13 sites in France, Italy and 2 more
- Volunteers
- 52 people
- Sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Genetic Disease, Nonverbal Communication
Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions
Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech.
- Conditions
- Genetic Disease, Nonverbal Communication, Augmentative and Alternative Communication, Rare Genetic Disease
- Trial name
- NCT07039084
- Testing
- Speech-generating device, Control
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Murdoch Childrens Research Institute
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Fabry Disease
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker.
- Trial name
- FABRyCar (NCT07351136)
- Testing
- PET scan of 68Ga-FAPI
- Volunteers
- 20 people
- Sponsor
- Núcleo de Apoio à Investigação Clínica - FMUP
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - United States Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT06144957
- Where
- 3 sites in United States
- Volunteers
- 17 people
- Sponsor
- TESS Research Foundation
Lung Cancer (NSCLC)
Perioperative Targeted Therapy in Resectable or Potentially Resectable Stage III Non-small Cell Lung Cancer With Rare Driver Mutations
This study evaluates the effectiveness and safety of targeted therapy given before and after surgery in patients with resectable or potentially resectable stage III non-small cell lung cancer with selected genetic alterations.
- Trial name
- NCT07829744
- Testing
- Surgical Resection
- Volunteers
- 190 people
- Sponsor
- Shanghai Zhongshan Hospital
Vascular Ehlers Danlos Syndrome
An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Vascular Ehlers-Danlos syndrome (vEDS) is a rare, life-threatening connective tissue disorder. People with vEDS have often been advised to limit physical activity, yet the safety and feasibility of structured exercise in this…
- Trial name
- NCT07697573
- Testing
- Co-designed exercise-based lifestyle intervention
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- Sheffield Hallam University
Rare Genetic Disease
Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use…
- Trial name
- JL-seq (NCT07877688)
- Where
- Italy
- Volunteers
- 1,950 people
- Sponsor
- Istituto Giannina Gaslini
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Rare Diseases
A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases
Rare diseases in children can affect not only the child's health but also the well-being and relationships within the entire family.
- Trial name
- FAIR (NCT07497581)
- Where
- Switzerland
- Volunteers
- 240 people
- Sponsor
- Markus A. Landolt
Cancer, NGS
Performance Indicators and Impact on the Care Pathway of Sequencing on the SeqOIA and AURAGEN (Seqogen) Platforms for Oncology Patients
As part of the French Genomic Medicine Plan 2025 (FGM), the SeqOIA and AURAGEN platforms were selected to perform high-throughput genomic sequencing.
- Conditions
- Cancer, NGS, Tumor, RARE DISEASE
- Trial name
- SONCO (NCT07147465)
- Where
- 3 sites in France
- Volunteers
- 3,149 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Systemic Lupus Erthematosus, Systemic Vasculitis
Rare AutoImmune SElf-management Programme Development
The rare autoimmune rheumatic diseases (RAIRDs) are life-long multi-system diseases that are life or organ threatening. RAIRDs can impair quality of life similar to chronic diseases such as heart failure.
- Conditions
- Systemic Lupus Erthematosus, Systemic Vasculitis, Inflammatory Myositis, Systemic Sclerosis (SSc)
- Trial name
- RAISE (NCT06642870)
- Testing
- Non-interventional study
- Where
- United Kingdom
- Volunteers
- 360 people
- Sponsor
- University of the West of England
HSCT, Respiratory
Assessing Pulmonary Changes in HSCT
This will be an un-blinded, open-label study of children and adults, including those who are being evaluated for or who have undergone HSCT, those with existing respiratory conditions and/or diagnosed gas-exchange impairment, and…
- Conditions
- HSCT, Respiratory, Gas Exchange Impairment
- Trial name
- NCT07823036
- Testing
- Hyperpolarized 129 Xenon
- Where
- United States
- Volunteers
- 550 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Pustular Psoriasis (PP)
International Rare And Severe Psoriasis Expert Network
This registry is a prospective observational study in order to describe primarily the natural course of PP subtypes and to gain detailed information about their phenotype.
- Trial name
- IRASPEN (NCT04359394)
- Testing
- biological sampling, Phenotypic description, Photography
- Where
- 8 sites in Germany, Italy and 4 more
- Volunteers
- 180 people
- Sponsor
- University Hospital, Basel, Switzerland
Haemoglobinopathies
Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19
The COVID-19 pandemic is causing many deaths around the world, putting a strain on health services. Patients with pre-existing chronic conditions are most affected by the SARS-COV2 infection.
- Trial name
- NCT04746066
- Where
- 2 sites in Italy
- Volunteers
- 10,000 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie