Clinical trials: Rare Diseases
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
Colic
Study to Evaluate Efficacy and Safety of Oral Doses of Hyoscine Butylbromide for the Treatment of Occasional Abdominal Pain, Cramping, and Discomfort
Study to determine whether hyoscine butylbromide can provide adequate symptomatic relief of a single episode - defined as lasting not longer than 1 day - and multiple episodes of abdominal pain or discomfort associated with…
- Trial name
- NCT02242292
- Testing
- Hyoscine butylbromide
- Volunteers
- 527 people
- Sponsor
- Boehringer Ingelheim
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
Sporotrichosis, Chromomycosis
A Study on Rare Dermatological Infections Conducted at Three Major Reference Hospitals in Costa Rica.
In Costa Rica there are some descriptive studies of some of these rare infectious diseases (sporotrichosis, chromomycosis and mycetomas); however, there are no recent published reports.
- Conditions
- Sporotrichosis, Chromomycosis, Actinomycosis, Nocardiosis
- Trial name
- NCT06523998
- Where
- 3 sites in Costa Rica
- Volunteers
- 95 people
- Sponsor
- Caja Costarricense de Seguro Social
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
Hereditary Angioedema
Social Evaluated Cold Pressor Test in Hereditary Angioedema Patients
This study aims to evaluate the differences in objective and subjective stress responses between patients with hereditary angioedema and healthy individuals to a stress-induced challenge like socially-evaluated cold pressure…
- Trial name
- FROSEN (NCT06414252)
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
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
Inflammatory, Interstitial, Rare Lung Diseases
The Study Of Probe-Based Confocal Laser Endomicroscopy Of Distal Airways In Diagnostics Of Lung Diseases
The study is devoted to the comparative analysis of the data received in patients with lung pathology using new method of probe-based confocal laser endoscopy of distal airways and two reference methods: high resolution computed…
- Trial name
- pCLE (NCT02006940)
- Testing
- miniprobe Alveoflex
- Where
- Russia
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Federal Research Clinical Center of Federal Medical & Biological Agency, Russia
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
Spinal Cord Injury, Quadriplegia
Electrical Activation of The Diaphragm for Ventilatory Assist
OBJECTIVES: The objectives of this study are to test the Diaphragm Pacing Stimulation (DPS) System for treating chronic ventilatory insufficiency in persons with respiratory muscle paralysis.
- Trial name
- NCT00010374
- Testing
- NeuRx DPS
- Where
- 5 sites in United States, Canada
- Volunteers
- 54 people
- Sponsor
- Synapse Biomedical
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
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