Clinical trials: Rare Disorders
Rare Diseases
Psychosocial Situation of Children With Rare (Congenital) Pediatric Surgical Diseases and Their Families
Families of children with rare diseases (i.e., not more than 5 out of 10.000 people are affected) are often highly burdened with fears, insecurities and concerns regarding the affected child and his/her siblings.
- Trial name
- NCT04382820
- Where
- Germany
- Volunteers
- 167 people, healthy volunteers welcome
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Urologic Diseases, Male Infertility
Protocol N. 2014 - Observational Study on the Quality of Life of Outpatients
Prospective observational study on the quality of life of patients attending general urology, sexual medicine, reproductive medicine, functional urology, neuro-urology and uro-oncology clinics.The data relating to the clinical…
- Conditions
- Urologic Diseases, Male Infertility, Sexual Medicine
- Trial name
- NCT06193850
- Testing
- Observation during time
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
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)
HIV Infections, Candidiasis, Oral
Oral Manifestations of Human Immunodeficiency Virus Infection in High Risk Groups
OBJECTIVES: I. Evaluate the development of oral manifestations of human immunodeficiency virus infection in relationship to the onset of immunologic alterations and systemic symptoms in different risk groups: gay/bisexual men…
- Trial name
- NCT00004781
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
CADASIL, Cavernous Angioma
Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2
CERVCO is the French National Reference Centre for Rare Cerebrovascular and Retinal Diseases, accredited by the Ministry of Health since 2005.
- Conditions
- CADASIL, Cavernous Angioma, Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy, Small Vessel Disease
- Trial name
- B-MRVC2 (NCT07650110)
- Testing
- Biocollection, Neurological evaluation and Biocollection
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Healthy
A Pilot Study of Rapid Haplotyping Procedure for Personalized Dosing of Dichloroacetate (DCA) in Healthy Volunteers
The purpose of this study is to identify and analyze the frequency of GSTZ1 haplotypes in a healthy adult population and determine the pharmacokinetics of Dichloroacetate (DCA) metabolism based on haplotype analysis.
- Trial name
- NCT02690285
- Testing
- Dichloroacetate (DCA), GSTZ1 haplotyping
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Florida
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
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
- Trial name
- NCT01235624
- Testing
- genetic analysis
- Where
- France
- Volunteers
- 1,161 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Cannabis, THC
Modulation of THC Effects by CBD: a Dose-ranging Study
The purposes of this study are 1) to determine if CBD modulates THC-induced acute psychoactive effects at different CBD:THC ratios, compared with the control product (0:20, 20:20, 40:20, 80:20, 120:20) and 2) to determine if…
- Trial name
- SPECTRE (NCT06099379)
- Testing
- ∆9-tetrahydrocannabinol
- Where
- Canada
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Rare Diseases
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
To collect, preserve, and distribute annotated leukopak biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Trial name
- NCT05794217
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
- Trial name
- NCT06839469
- Where
- 3 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Columbia University
Systemic Sclerosis
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
OBJECTIVES: I. Determine whether defects in fibrillin-1 cellular processing are present in the tsk1 mouse model that carries a known FBN1 gene rearrangement and in a population of Choctaw Native American patients with systemic…
- Trial name
- NCT00006393
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Cystic Fibrosis
Study of Ibuprofen to Preserve Lung Function in Patients With Cystic Fibrosis
OBJECTIVES: I. Determine the effect of different doses of ibuprofen on neutrophil (polymorphonuclear leukocyte; PMN) delivery to a mucosal surface (the oral mucosa) in patients with cystic fibrosis and healthy controls. II.
- Trial name
- NCT00004440
- Testing
- ibuprofen
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- FDA Office of Orphan Products Development
Eye Diseases, Severe Loss of Vision
Holistic Mixed Approaches to Capture the Real Life of Children With Rare Eye Diseases
Rare Eye Diseases (RED) are the leading cause of severe visual impairment/ blindness (SVI/B) in children in Europe. This sensory disability with its accompanying psychological distress hugely impacts their lives and their…
- Conditions
- Eye Diseases, Severe Loss of Vision, Blindness, Quality of Life
- Trial name
- SeeMyLife (NCT06070467)
- Testing
- Mixed Methods Research (MMR) using quantitative (QUAN) and qualitative (QUAL) tools
- Where
- France
- Volunteers
- 154 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
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)
Rare Diseases, Thoracic Aortic Aneurysm (TAA)
Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate…
- Conditions
- Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome
- Trial name
- FIBRA (NCT06786754)
- Where
- Italy
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato