Clinical trials: Rare Disorders
Neoplastic Disease, Solid Tumor
Indocyanine Green (ICG) Guided Tumor Resection
This is a study to assess the ability of Indocyanine Green (ICG) to identify neoplastic disease. For many pediatric solid tumors, complete resection of the primary site and/or metastatic deposits is critical for achieving a cure.
- Trial name
- NCT04084067
- Testing
- Indocyanine Green
- Where
- United States
- Volunteers
- 215 people
- Sponsor
- St. Jude Children's Research Hospital
Rare Diseases
Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study
The goals of this clinical trial are to (a) evaluate the feasibility and acceptability of a social robot intervention for providing family-based care for rare diseases families and (b) explore the effectiveness of the social…
- Trial name
- NCT06466109
- Testing
- social robot intervention
- Where
- 2 sites in Taiwan
- Volunteers
- 14 people
- Sponsor
- National Yang Ming Chiao Tung University
Herpes Simplex
Phase III Randomized Study of Oral Acyclovir in Infants With Herpes Simplex Virus Infection Involving the Central Nervous System
OBJECTIVES: I. Determine the efficacy of long term suppressive therapy with oral acyclovir in infants with herpes simplex virus infection involving the central nervous system. II.
- Trial name
- NCT00006132
- Testing
- acyclovir
- Where
- 28 sites in United States, Canada
- Volunteers
- 132 people
- Sponsor
- National Center for Research Resources (NCRR)
Diabetes Insipidus
Study of Novel Types of Familial Diabetes Insipidus
OBJECTIVES: I. Define the phenotype and genotype of previously unrecognized types of familial diabetes insipidus (FDI) in kindreds with atypical or novel forms of FDI.
- Trial name
- NCT00004364
- Testing
- desmopressin
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Tyrosinemia I
Study of NTBC for Tyrosinemia I
OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver…
- Trial name
- NCT00004443
- Testing
- NTBC
- Where
- 3 sites in United States, Canada
- Volunteers
- 20 people
- Sponsor
- University of Washington
Systemic Lupus Erythematosus
Randomized Study of Oral Contraceptives or Hormone Replacement Therapy in Women With Systemic Lupus Erythematosus
OBJECTIVES: I. Determine the effect of oral contraceptives containing low-dose synthetic estrogens and progestins on disease activity in premenopausal women with inactive, stable, or moderate systemic lupus erythematosus (SLE).
- Trial name
- NCT00006133
- Testing
- estradiol, ethinyl estradiol, medroxyprogesterone
- Where
- 17 sites in United States
- Volunteers
- 970 people
- Sponsor
- National Center for Research Resources (NCRR)
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
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
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
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
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
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)
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
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