Clinical trials: Rare Disease
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Carotid Atherosclerosis, Myocardial Infarction
Comparison of Asymptomatic Carotid Atherosclerosis Between Frequent and Infrequent Blood Donors
Iron has been proposed to contribute to atherogenesis in humans by facilitating the oxidation of lipoproteins. This observational study will evaluate the association between frequency of blood donation - expected to be associated…
- Trial name
- NCT00001589
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
IGA Glomerulonephritis
Pilot Study of Enalapril and Renal Function in Patients With IgA Nephropathy
OBJECTIVES: I. Determine the most sensitive outcome measures (functional or morphological) of a progressive renal injury in patients with IgA nephropathy. II.
- Trial name
- NCT00006137
- Testing
- enalapril
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Congenital Malformation
The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation
Qualitative study in psychology whose main objective is to propose a grounded theory to report the dynamics of parental adjustment for the period from the announcement of the diagnosis to one year of the child affected by a rare…
- Trial name
- INEMAT (NCT03565822)
- Testing
- Interview
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder
Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers
Phase 1 single dose study of ALXN1101 in healthy volunteers.
- Conditions
- Molybdenum Cofactor Deficiency (MoCD), Rare Autosomal Recessive Disorder, Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
- Trial name
- NCT01894165
- Testing
- ALXN1101
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Origin Biosciences
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Amino Acid Metabolism, Inborn Errors
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine .
- Trial name
- NCT00004307
- Testing
- Protein and calorie controlled diet, Ornithine transcarbamylase vector
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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)
Systemic Lupus, Autoimmune Diseases
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood.
- Conditions
- Systemic Lupus, Autoimmune Diseases, Autoinflammatory Disease, Genetic Disease
- Trial name
- GENIALII (NCT06435468)
- Testing
- Blood sample for genetic analysis, Blood sample for immunological response assessments, Blood sample to identify relevant biomarker of the disease
- Where
- 13 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Quality of Life, Cognitive Impairment
Long Term Implications of Rare Brain Tumours'
Patients diagnosed with oligodendroglioma with a specific molecular profile represent rare tumour groups (about 10% of adult gliomas) with relatively favourable prognosis (median survival between 8 and 12 years).
- Conditions
- Quality of Life, Cognitive Impairment, WHO Grade II Oligodendroglial Tumor, WHO Grade III Oligodendroglial Tumor
- Trial name
- NCT04708548
- Testing
- Health-related Quality of Life, Psychological Distress, Fatigue
- Where
- 2 sites in Netherlands, United Kingdom
- Volunteers
- 267 people, healthy volunteers welcome
- Sponsor
- Galina Velikova
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder
The Longitudinal CONQUER Study of Rare Neuroimmunologic Disorders
This study seeks to determine the biologic causes of inflammation in patients with Transverse Myelitis (TM) Neuromyelitis Optica Spectrum Disorder (NMOSD) and related conditions.
- Conditions
- Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis
- Trial name
- NCT01623076
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Friedreich Ataxia
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological…
- Trial name
- UNIFAI (NCT06016946)
- Where
- 34 sites in United States, Australia and 15 more
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Parkinson Disease
Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease.
- Trial name
- NCT04620980
- Testing
- targeted resequencing
- Where
- Italy
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Pertussis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Acellular and Whole-Cell Pertussis Vaccines
OBJECTIVES: I. Compare the safety and efficacy of acellular 2-component vs. acellular multicomponent vs. whole-cell pertussis vaccine vs. placebo in infants living in Sweden. II.
- Trial name
- NCT00004799
- Testing
- whole-cell pertussis vaccine, diphtheria-tetanus vaccine
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)