Clinical trials: Rare Diseases
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
Hypertension
Lacidipine in Medical Practice in Patients With Mild to Moderate Essential Hypertension
In order to confirm the proposed metabolic effect of lacidipine these follow-up study was to provide long-term data on its impact on liver function, glucose homoeostasis and lipid metabolism.
- Trial name
- NCT02177331
- Testing
- Lacidipine
- Volunteers
- 53 people
- Sponsor
- Boehringer Ingelheim
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.
Pseudohypoaldosteronism
Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I
OBJECTIVES: I. Establish the sodium and potassium intake that will maintain a normovolemic state in a patient with pseudohypoaldosteronism. II.
- Trial name
- NCT00004328
- Testing
- enalapril, polystyrene sulfonate
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
Methionine Adenosyltransferase Deficiency, Metabolism, Inborn Errors
Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency
OBJECTIVES: I. Determine whether plasma choline and breast milk choline levels are low at fasting in a patient with methionine adenosyltransferase deficiency, and if the choline levels are low, determine whether choline levels…
- Trial name
- NCT00006061
- Testing
- phosphatidylcholine
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Fanconi's Anemia
Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Fanconi's Anemia
OBJECTIVES: I. Determine the effectiveness of moderate dose cyclophosphamide and total lymphoid radiotherapy in terms of improving the survival and reducing the morbidity following allogeneic bone marrow transplantation in…
- Trial name
- NCT00005891
- Testing
- cyclophosphamide, Allogeneic Bone Marrow Transplantation
- Where
- United States
- Sponsor
- Fairview University Medical Center
Sickle Cell Anemia
Pilot Study of Fructose for Sickle Cell Crisis
OBJECTIVES: I. Evaluate the efficacy and tolerability of fructose administered every 6 hours for up to 72 hours to patients in active sickle cell crisis. II.
- Trial name
- NCT00004797
- Testing
- fructose
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis
Phase I Randomized Study of CPX for the Treatment of Adult Patients With Mild Cystic Fibrosis
OBJECTIVES: I. Evaluate the safety of ascending doses of CPX administered to adult patients with mild cystic fibrosis. II. Evaluate the pharmacokinetics of ascending doses of CPX in this patient population.
- Trial name
- NCT00004428
- Testing
- CPX
- Volunteers
- 35 people
- Sponsor
- FDA Office of Orphan Products Development
Rare Diseases, Fabry Disease
MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.
- Conditions
- Rare Diseases, Fabry Disease, Adherence, Medication, Quality of Life
- Trial name
- MALTA-FABRY (NCT03683966)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Wuerzburg University Hospital
Gaucher Disease
Implementation and Evaluation of a Rare Disease Algorithm to Identify Persons at Risk of Gaucher Disease Using Data From Electronic Health Records (EHRs) in the United States (Project Searchlight)
This is a three-phase study comprising both retrospective and prospective components, as follows: Phase I: Deployment of Rare Disease Algorithm: A diagnostic screening algorithm was developed using advanced analytical methods to…
- Trial name
- NCT05908656
- Testing
- Investigational procedure
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sanofi
Multiple Sclerosis
Diagnostic Study of Quantitative Imaging and Spectroscopy in Patients With Multiple Sclerosis
OBJECTIVES: I. Determine by quantitative magnetic resonance imaging measurements the change in the total volume of brain parenchyma as well as its gray and white matter, T2 and enhanced T1 lesion volume, and the magnetization…
- Trial name
- NCT00006060
- Testing
- standard gadolinium contrast
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Pustular Psoriasis (PP)
International Rare And Severe Psoriasis Expert Network
This registry is a prospective observational study in order to describe primarily the natural course of PP subtypes and to gain detailed information about their phenotype.
- Trial name
- IRASPEN (NCT04359394)
- Testing
- biological sampling, Phenotypic description, Photography
- Where
- 8 sites in Germany, Italy and 4 more
- Volunteers
- 180 people
- Sponsor
- University Hospital, Basel, Switzerland
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)
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet
Rett Syndrome
Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome. II.
- Trial name
- NCT00004773
- Volunteers
- 95 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Haemoglobinopathies
Observational Study for Patients With Hemoglobinopathies and Rare Inherited Anemia and Covid 19
The COVID-19 pandemic is causing many deaths around the world, putting a strain on health services. Patients with pre-existing chronic conditions are most affected by the SARS-COV2 infection.
- Trial name
- NCT04746066
- Where
- 2 sites in Italy
- Volunteers
- 10,000 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie
Endocrine Disorder, Rare Disorders
Transition of Care in Pediatric Rare Endocrine Disorders
This study will evaluate the transition from pediatric to adult care in patients with pediatric-onset rare endocrine disorders. The study includes three components: a review of medical records to assess previous transition…
- Trial name
- TRANSPIRE (NCT07786142)
- Testing
- Structured Transition-of-Care Program
- Where
- 11 sites in South Korea
- Volunteers
- 150 people
- Sponsor
- Seoul National University Hospital
Hyperaldosteronism
Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable Aldosteronism
OBJECTIVES: I. Determine the prevalence of glucocorticoid-remediable aldosteronism (GRA) in various hypertensive populations and screen at risk members of GRA pedigrees. II.
- Trial name
- NCT00004354
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)