Clinical trials: Rare Diseases
Hemolytic Uremic Syndrome
Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome
OBJECTIVES: I. Determine the effect of SYNSORB Pk therapy on mortality and frequency of severe extrarenal complications observed in children with acute stage E. coli-associated hemolytic uremic syndrome. II.
- Trial name
- NCT00004465
- Testing
- SYNSORB Pk
- Where
- 27 sites in United States, Canada
- Volunteers
- 145 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Diabetes Mellitus, Diabetes Mellitus Progression
Rare and Atypical Diabetes Network
RADIANT is a network of 14 clinical sites and several laboratories dedicated to the study of atypical diabetes. The objective of this study is to define new forms of diabetes and the unique mechanisms underlying these forms of…
- Conditions
- Diabetes Mellitus, Diabetes Mellitus Progression, Glucose Intolerance, Glucose Metabolism Disorders
- Trial name
- RADIANT (NCT05544266)
- Where
- 13 sites in United States
- Volunteers
- 2,000 people
- Sponsor
- University of South Florida
Infant Botulism, Botulism
Study of Human Botulism Immunoglobulin in Infants With Botulism
OBJECTIVES: I. Determine the safety of human botulism immune globulin (BIG) in patients with infant botulism by monitoring side effects (e.g., rash, fever, hypotension, and anaphylaxis). II.
- Trial name
- NCT00004401
- Testing
- botulism immune globulin
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- California Department of Health Services
Corneal Neovascularization
Randomized Study of Photodynamic Therapy Using Dihematoporphyrin in Patients With Corneal Neovascularization
OBJECTIVES: I. Demonstrate the safety and efficacy of dihematoporphyrin derivative (DHP) in laser photodynamic therapy (PDT) in patients with corneal neovascularization. II.
- Trial name
- NCT00004430
- Testing
- Dihematoporphyrin derivative, prednisolone, Laser surgery
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Medical College of Hampton Roads
Spastic Diplegia
Phase II Randomized Study of Selective Dorsal Rhizotomy and Physiotherapy Vs Physiotherapy Alone for Spastic Diplegia
OBJECTIVES: I. Assess the efficacy and safety of selective dorsal rhizotomy and physiotherapy compared with physiotherapy alone in improving gross motor function and reducing spasticity in children with spastic diplegia.
- Trial name
- NCT00004751
- Testing
- Surgery, Physical therapy
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Neuroblastoma, Medulloblastoma
Molecular-Guided Therapy for Relapsed and Refractory Childhood Cancer
The purpose of this study is to test the feasibility (ability to be done) of experimental technologies to determine a tumor's molecular makeup (gene expression profile) and mutations.
- Conditions
- Neuroblastoma, Medulloblastoma, Brain Tumors, Rare Tumors
- Trial name
- NCT01802567
- Testing
- Guided Therapy- Pediatric Gene Analysis Platform
- Where
- 13 sites in United States
- Volunteers
- 52 people
- Sponsor
- Giselle Sholler
Neurodevelopmental Disorder (Diagnosis)
Expanding NGS Data with Optical Genome Mapping (OGM)
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping.
- Trial name
- OGM (NCT06851377)
- Testing
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Trascriptome analysis
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Eugenio Medea
Spinocerebellar Ataxia
Coordination Training With Complete Body Video Games in Children and Adults With Degenerative Ataxias
Exergame training might offer a novel treatment approach even in largely nonambulatory subjects with multisystemic degenerative spinocerebellar ataxia.
- Trial name
- Move'n Fun (NCT02874911)
- Testing
- General training
- Volunteers
- 10 people
- Sponsor
- University Hospital Tuebingen
Rare Diseases, Epidemiology
Verification of the Epidemiology and Mortality of Rare Diseases in Taiwan With Real-world Evidence
This study aims to explore the longitudinal incidence and prevalence trends of selected muscular and bone-related rare diseases, i.e., Familial Amyloidotic Polyneuropathy (FAP), Primary hyperoxaluria, Wilson's disease, Cystic…
- Conditions
- Rare Diseases, Epidemiology, Morbidity, Morality
- Trial name
- NCT05367115
- Testing
- longitudinal observational study
- Where
- Taiwan
- Volunteers
- 5,000 people
- Sponsor
- National Cheng-Kung University Hospital
Haemophilia
Defeat Rare Disease in Asia and Pacific (APAC) DRDA - Haemophilia
This study will help to better understand the course of disease in people with haemophilia (A or B [with or without inhibitors]) and the haemophilia care scenario in the selected countries and the experience so far in dealing…
- Trial name
- NCT07163260
- Testing
- No treatment given
- Where
- 4 sites in India, Malaysia and 2 more
- Volunteers
- 244 people
- Sponsor
- Novo Nordisk A/S
Anemia, Hemosiderosis
Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Rare Chronic Anemia Patients
A 1-year randomized Phase II core trial was conducted to investigate the efficacy of deferasirox in regularly transfused patients with β-thalassemia and other rare chronic anemia 2 years of age and older.
- Trial name
- NCT00303329
- Testing
- Deferasirox
- Where
- 28 sites in United States, Belgium and 5 more
- Volunteers
- 184 people
- Sponsor
- Novartis Pharmaceuticals
Usher Syndrome
Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
This study aims to characterize Usher patients in order to correlate this data with genetic information. Tasks: Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and…
- Trial name
- EURUSH (NCT01954953)
- Where
- 6 sites in France, Germany and 2 more
- Volunteers
- 100 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Acanthosis Nigricans, Polycystic Ovary Syndrome
Phase II Study of the Effect of Leuprolide Acetate and Spironolactone on Insulin Resistance in Hyperandrogenic Women With Polycystic Ovarian Disease or Hyperandrogenism Insulin Resistance Acanthosis Nigricans Syndrome
OBJECTIVES: I. Evaluate insulin resistance in thin and obese hyperandrogenic women with polycystic ovarian disease or hyperandrogenism insulin resistance acanthosis nigricans syndrome and in thin and obese controls, using an…
- Trial name
- NCT00004311
- Testing
- leuprolide acetate, spironolactone
- Sponsor
- National Center for Research Resources (NCRR)
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
BA - Biliary Atresia
Biliary Atresia With Rare Associations, a Case Report
Background: It is not often written in medical journals that preduodenal portal vein, biliary atresia, intestinal malrotation, and situs inversus totalis are all related.
- Trial name
- BA (NCT05917236)
- Testing
- hepato-portoentostomy
- Where
- Egypt
- Volunteers
- 1 people
- Sponsor
- Sarah Magdy Abdelmohsen
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 01: Alectinib in Adult, Paediatric and Teenage/Young Adult Patients With ALK Positive Cancers
This clinical trial is looking at a drug called alectinib. Alectinib is approved as standard of care treatment for adult patients with certain types of lung cancer.
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770037)
- Testing
- Alectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Pituitary Diseases
Clinical Characteristics and Analysis of Pituitary Complex and Rare Diseases
The goal of this observational study is to systematically describe the clinical characteristics and outcomes of patients with pituitary complex and rare diseases at Peking Union Medical College Hospital.
- Trial name
- NCT06435195
- Testing
- Surgical Removal, Biopsy
- Where
- China
- Volunteers
- 3,000 people
- Sponsor
- Peking Union Medical College Hospital
Mucopolysaccharidosis Type 7
An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient
Emergency access granted to treat a single patient with advanced Mucopolysaccharidosis Type 7 with UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy via IV administration every other week (QOW) for up…
- Trial name
- NCT02097251
- Testing
- UX003
- Where
- United States
- Sponsor
- Joyce Fox
Fatty Liver
Randomized Study of the Use of Intravenous Choline Supplementation in Long Term Total Parenteral Nutrition
OBJECTIVES: I. Determine whether intravenous choline supplementation will reverse the hepatic steatosis and improve liver function in patients who receive long term total parenteral nutrition.
- Trial name
- NCT00004697
- Testing
- choline chloride
- Volunteers
- 15 people
- Sponsor
- University of Texas