Clinical trials: Rare Disorders
Primary Hyperoxaluria Type 1, PH1
Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1)
This study will be conducted to evaluate the efficacy and safety of YOLT-203 in children and adults with Primary Hyperoxaluria Type 1.
- Trial name
- NCT07587021
- Testing
- YOLT-203
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- YolTech Therapeutics Co., Ltd
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Predisposition
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background: The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or…
- Trial name
- NCT01375543
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
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
Ewing's Sarcoma, Leukemia
Evaluation, Treatment, and Natural History of Children and Young Adults With Cancer or Rare Diseases
This protocol is designed to evaluate children with cancer who appear to be probable candidates for future protocol entry or have disease manifestations that are of unique scientific importance or educational value.
- Conditions
- Ewing's Sarcoma, Leukemia, Lymphoma, Brain Tumors
- Trial name
- NCT00001686
- Where
- United States
- Volunteers
- 482 people
- Sponsor
- National Cancer Institute (NCI)
Growth Hormone Treatment, Growth Disorders
The Efficacy and Safety of PEGylated GH for the Treatment of Short Stature in Chinese Children-GLOBE Reg
In order to further observe the long-term safety and effectiveness of real-world polyethylene glycol-recombinant human growth hormone(PEG-rhGH) treatment of GHD, idiopathic short stature, and SGA in children, explore and analyze…
- Trial name
- NCT06037473
- Testing
- Polyethylene glycol recombinant human growth hormone injection
- Where
- China
- Volunteers
- 2,600 people
- Sponsor
- Beijing Children's Hospital
Epilepsy, Seizure Disorder
Epilepsy Learning Healthcare System (ELHS)
The Epilepsy Learning Health System (ELHS) is a quality improvement and research network to improve outcomes for people with epilepsy.
- Conditions
- Epilepsy, Seizure Disorder, Neurologic Disorder, Rare Diseases
- Trial name
- ELHS (NCT06265103)
- Testing
- Clinical care and quality improvement
- Where
- 13 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Epilepsy Foundation of America
Rare Diseases, Toxic Epidermal Necrolyses
Severe Bullous Drug Eruption and Filgrastim
Toxic epidermal necrolysis (TEN) including Stevens Johnson (SJS) and Lyell syndromes represent the most severe drug eruptions. It is an allergic disorder caused by cytotoxic T lymphocytes, specific of drugs, responsible for the…
- Trial name
- GNET (NCT04651439)
- Testing
- Filgrastim
- Where
- 3 sites in France
- Volunteers
- 42 people
- Sponsor
- Hospices Civils de Lyon
Epidermolysis Bullosa
Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa
OBJECTIVES: I. Determine the safety of isotretinoin in patients with recessive dystrophic epidermolysis bullosa.
- Trial name
- NCT00014729
- Testing
- isotretinoin
- Volunteers
- 20 people
- Sponsor
- University of North Carolina
Cystinosis, Nephropathic Cystinosis
Cure Cystinosis International Registry
Cure Cystinosis International Registry (CCIR) is an online, patient self-identifying registry developed by medical and scientific experts specifically for the cystinosis community.
- Conditions
- Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome
- Trial name
- CCIR (NCT01327807)
- Where
- United States
- Volunteers
- 750 people
- Sponsor
- Cystinosis Research Foundation
Skeletal Disorders
Study of Skeletal Disorders
Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
- Trial name
- NCT05031507
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Metabolic Disease, Obesity
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System
Background: Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels.
- Conditions
- Metabolic Disease, Obesity, Li-Fraumeni Syndrome, Cardiomyopathy
- Trial name
- NCT01143454
- Testing
- NSR IDE-MRI: Research pulse sequences
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Rett Syndrome
Nutritional Aspects of Rett Syndrome
OBJECTIVES: I. Determine dietary macronutrient intake in children with Rett syndrome and in healthy controls. II. Measure sleeping and awake metabolic rates in various positions, i.e., reclining, sitting, and standing, by…
- Trial name
- NCT00004656
- Testing
- Metabolic assessment with body composition evaluation
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Osteoporosis
Phase II Study of Alendronate Sodium in Children With High-Turnover Idiopathic Juvenile Osteoporosis
OBJECTIVES: I. Determine the effects of alendronate sodium on skeletal remodeling and bone mineral density of the hip and spine in children with high-turnover idiopathic juvenile osteoporosis.
- Trial name
- NCT00010439
- Testing
- Alendronate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Medical University of South Carolina
Rare Diseases, Pediatric Disorder
Marfan Syndrome and Quality of Life of Pediatric Patients
The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: The assessment of quality of life in MFS Italian patients; The…
- Trial name
- MarfanPed (NCT05748314)
- Testing
- Questionnaire
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Policlinico S. Donato
Wilson Disease
Study of Zinc for Wilson Disease
OBJECTIVES: I. Establish the safety and efficacy of extended maintenance zinc therapy in 200 patients with Wilson disease. II. Establish further the role of zinc in the prophylactic treatment of presymptomatic patients by…
- Trial name
- NCT00004338
- Testing
- zinc acetate
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- National Center for Research Resources (NCRR)
Lung Neoplasms
Efficacy of EGFR TKIs in Patients With Rare EGFR-mutated NSCLC
Lung cancer is the leading cause of cancer-related death worldwide and is well known to remain a major health problem. Non-small-cell lung cancer (NSCLC) constitutes more than 80% of all the cases of lung cancer.
- Trial name
- NCT01775943
- Where
- South Korea
- Volunteers
- 90 people
- Sponsor
- Ulsan University Hospital
Tourette Syndrome
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
OBJECTIVES: I. Evaluate the safety and efficacy of the alpha-2 adrenergic agonist guanfacine in children and adolescents with Tourette syndrome or other chronic tic disorder, and attention deficit hyperactivity disorder.
- Trial name
- NCT00004376
- Testing
- guanfacine
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Pervasive Child Development Disorders, Autism
Longitudinal and Biological Study of Childhood Disintegrative Disorder
OBJECTIVES: I. Compare the developmental course (language acquisition, diagnostic stability, predictors of outcome, and restricted interests and behaviors) of childhood disintegrative disorder versus autism and non-autistic…
- Trial name
- NCT00004458
- Where
- 2 sites in United States
- Volunteers
- 220 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)