Clinical trials: Rare Disorders
Wegeners Granulomatosis (Granulomatosis With Polyangiitis), Microscopic Polyangiitis
Pediatric Vasculitis Initiative
Childhood chronic vasculitis describes a group of rare life-threatening diseases that have in common inflammation of blood vessels in vital organs such as kidneys, lungs and brain.
- Conditions
- Wegeners Granulomatosis (Granulomatosis With Polyangiitis), Microscopic Polyangiitis, Eosinophilic Granulomatosis With Polyangiitis, Polyarteritis Nodosa
- Trial name
- PedVas (NCT02006134)
- Where
- 32 sites in United States, Canada and 5 more
- Volunteers
- 1,600 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate…
- Trial name
- NCT00004356
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Hereditary Angioedema
Autonomic Nervous System Profile in Hereditary Angioedema
The goal of this study is to compare the autonomic nervous system control of patients with hereditary angioedema to healthy individuals.
- Trial name
- ANS-HAE (NCT06408805)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
Systemic Lupus Erythematosus
Ultraviolet Light Therapy for Systemic Lupus Erythematosus
OBJECTIVES: I. Evaluate the mechanisms of ultraviolet A-1 light therapy in patients with systemic lupus erythematosus and normal controls.
- Trial name
- NCT00004375
- Testing
- ultraviolet A-1 light treatment
- Where
- 2 sites in United States
- Volunteers
- 20 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)
Multiple Sclerosis, Parkinson Disease
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of < 5 out of 10'000 and 100'000 people, respectively.
- Conditions
- Multiple Sclerosis, Parkinson Disease, Peripheral Neuropathy, Rare Diseases
- Trial name
- GALVANISE (NCT06343558)
- Testing
- Questionnaires, clinical scales and instrumental tests
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Cognitive Burden, Cognitive Symptom
Evaluation of Impact of AI Assistance on Workload Associated w Preparation of Rare Tumor Case Repts
The goal of this study is to explore cognitive burden perceptions among physicians in relation to case report writing. Furthermore, this study evaluates the use of artificial intelligence (AI) assistance as a tool to reduce…
- Trial name
- NCT06026098
- Testing
- Artificial Intelligence
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Erectile Dysfunction
The Effects of a Nitrate Supplementation on Erectile Function
Twenty (20) individuals to be recruited from Ballantyne Medical Associates in Charlotte, NC, without any significant chronic medical history. These patients are general patients for primary care that meet inclusion criteria.
- Trial name
- NCT06213077
- Testing
- Nitric Oxide, Tadalafil
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- RHA Investments Ltd
Sleep Disorders, Circadian Rhythm, Cognitive Dysfunction
Feasibility Study on the Use of Redormin®500 on Day-time Cognition
Randomized, double-blind, parallel groups, placebo-controlled, baseline/run-in period of 21 days followed by trial period of 21 days, digital phenotyping (sleep, cognitive/psychological parameters and HRV).
- Trial name
- NCT05684523
- Testing
- Valerian-Hop Extract
- Where
- Switzerland
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Max Zeller Soehne AG
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
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)
Rare Diseases, Aniridia
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with…
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency
- Trial name
- NCT06412718
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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)
Acromegaly
Study of the Effect of Growth Hormone-Releasing Hormone Antagonist on Growth Hormone Release in Acromegaly
OBJECTIVES: I. Determine whether release of endogenous growth hormone (GH)-releasing hormone is involved in GH responses to clonidine, pyridostigmine, levodopa, arginine, GH-releasing peptide, insulin-induced hypoglycemia, and…
- Trial name
- NCT00004332
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Obesity
Nutritious Eating With Soul at Rare Variety Cafe
To date, few dissemination and implementation (D\&I) studies exist of successful healthy eating interventions delivered through restaurant settings.
- Trial name
- NEWSoul@RV (NCT04513769)
- Testing
- Vegan diet
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of South Carolina
Rheumatic Disease
Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease
Background: The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses.
- Trial name
- NCT02504879
- Where
- United States
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Rare Genetic Disease, Acute Necrotizing Encephalopathy
Role of the Nuclear Pore Component RANBP2 in Inflammatory Responses to Viral Infections
The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1…
- Trial name
- InflammaNUP (NCT06731790)
- Testing
- Blood sampling for inflammatory phenotype analysis, Blood sampling for genetic analysis
- Where
- France
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Diabetes Insipidus, Nephrogenic
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
OBJECTIVES: I. Determine the relationship between genotype variations and clinical phenotype in patients with congenital nephrogenic diabetes insipidus.
- Trial name
- NCT00004360
- Testing
- chlorothiazide
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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