Clinical trials: Rare Disorders
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
Pain, Diabetic Neuropathies
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Mexiletine for Painful Diabetic Neuropathy
OBJECTIVES: I. Assess the efficacy and toxicity of mexiletine in the management of paresthesias and pain in patients with diabetic neuropathy.
- Conditions
- Pain, Diabetic Neuropathies, Paresthesia
- Trial name
- NCT00004647
- Testing
- mexiletine
- Volunteers
- 40 people
- Sponsor
- National Center for Research Resources (NCRR)
Xlsma, DMD
Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children
The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases.
- Conditions
- Xlsma, DMD, X-ALD, TSC
- Trial name
- NCT03649919
- Where
- China
- Sponsor
- Children's Hospital of Fudan University
Adrenocortical Carcinoma, Peritoneal Carcinomatosis
Surgery and Heated Chemotherapy for Adrenocortical Carcinoma
Background: Adrenocortical carcinoma (ACC) is a rare tumor of the adrenal gland. Few people who develop this disease live more than 5 years after being diagnosed.
- Trial name
- NCT01833832
- Testing
- Cisplatin, Cytoreductive surgery, sodium thiosulfate
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Cancer Institute (NCI)
Neurodevelopmental Disorders, Rare Diseases
Evaluation of the French Version of the PEERS Social Skills Training Program for Adolescents With Rare Neurodevelopmental Disorders
Adolescents and young adults with rare neurodevelopmental disorders are at risk of developing psychiatric pathologies during the transition to adulthood.
- Trial name
- PEERS-MRND (NCT06612333)
- Where
- France
- Volunteers
- 64 people
- Sponsor
- Imagine Institute
Siderosis, Neurological Disorder
Audiovestibular Function in Infratentorial Superficial Siderosis
One in six people in the United Kingdom and over 400 million people worldwide have disabling hearing loss. This figure will double by 2050 as predicted by the World Health Organisation.
- Conditions
- Siderosis, Neurological Disorder, Rare Diseases, Age Related Hearing Loss
- Trial name
- AViSS (NCT04200664)
- Testing
- Hearing assessment, Vestibular/balance assessment, Quality of life assessment
- Where
- 2 sites in United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College, London
Cystic Fibrosis
Study of Total Energy Expenditure in Infants and Children With Moderate to Severe Cystic Fibrosis
OBJECTIVES: I. Compare the resting energy expenditure using respiratory calorimetry in infants and children with moderate to severe cystic fibrosis versus age matched healthy controls. II.
- Trial name
- NCT00006273
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Systemic Sclerosis
Phase II Study of Recombinant Relaxin for Progressive Systemic Sclerosis
OBJECTIVES: I. Determine whether parenteral relaxin improves skin tightness, Raynaud's phenomenon, digital morbidity, and digital ulcers in a patient with progressive systemic sclerosis (scleroderma). II.
- Trial name
- NCT00004380
- Testing
- relaxin
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
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
Aplastic Anemia
Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia
OBJECTIVES: I. Compare outcome, including graft failure, graft versus host disease, and survival of HLA-identical sibling bone marrow transplants for aplastic anemia using cyclophosphamide with or without antithymocyte globulin…
- Trial name
- NCT00004474
- Testing
- Anti-thymocyte globulin, Cyclophosphamide, Bone marrow transplantation
- Where
- 4 sites in United States
- Volunteers
- 224 people
- Sponsor
- Roswell Park Cancer Institute
Hypertension, Pulmonary
Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension
OBJECTIVES: I. Provide epoprostenol (Flolan, prostaglandin I2) by chronic infusion to patients with severe primary pulmonary hypertension for whom no alternative therapy is available. II.
- Trial name
- NCT00004754
- Testing
- epoprostenol
- Sponsor
- National Center for Research Resources (NCRR)
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
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Phase III Randomized, Double-Blind, Placebo-Controlled Study of 3,4-Diaminopyridine for Demyelinating Polyneuropathy
OBJECTIVES: I. Assess the efficacy of 3,4-diaminopyridine in patients with stable chronic demyelinating polyneuropathy.
- Trial name
- NCT00004939
- Testing
- ,4-diaminopyridine
- Volunteers
- 34 people
- Sponsor
- National Center for Research Resources (NCRR)
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
Spinal Cord Injury
Methylprednisolone Given by 24-Hour or 48-Hour Infusion Versus Tirilazad for Acute Spinal Cord Injury
OBJECTIVES: I. Compare the efficacy and safety of 24- versus 48-hour infusion of methylprednisolone (MePRDL) versus tirilazad for patients with acute spinal cord injury. II.
- Trial name
- NCT00004759
- Testing
- methylprednisolone, tirilazad
- Volunteers
- 497 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Non Small Cell Lung Cancer
A Retrospective Study: Evaluation of the Efficacy of Immunotherapy With Rare Mutations in Non-small Cell Lung Cancer
In advanced non-small cell lung cancer, there will be some rare mutations, such as ALK, KRAS, etc. The efficacy of these immunotherapies on these different rare mutations has not been reported.
- Trial name
- NCT04777175
- Testing
- immunity therapy
- Where
- 2 sites in China
- Volunteers
- 186 people
- Sponsor
- Yongchang Zhang
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
Meconium Aspiration
Phase III Randomized Study of Lucinactant in Full Term Newborn Infants With Meconium Aspiration Syndrome
OBJECTIVES: Evaluate the safety and efficacy of lucinactant administered by bronchoalveolar lavage (BAL) in the treatment of meconium aspiration syndrome (MAS) in newborn infants.
- Trial name
- NCT00004500
- Testing
- Lucinactant, Standard Care
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Windtree Therapeutics