Clinical trials: Rare Diseases
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Huntington's Disease
Long-Term Study of Cerebral Glucose Metabolism in Huntington's Disease
OBJECTIVES: I. Correlate clinical outcome with cerebral glucose metabolism in patients with Huntington's disease (HD) and their at-risk relatives. II.
- Trial name
- NCT00004753
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Cannabis
A Study of Inhaled Cannabidiol in Healthy Occasional Cannabis Users
The purposes of this study are 1) to determine if the administration of different low doses of CBD (5 mg, 20 mg, 50 mg and 100 mg) result in detectable subjective pleasant drug effect compared to placebo and 2) to qualitatively…
- Trial name
- NCT05320367
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
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
Stereotyped Behavior, Mental Retardation
Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis
OBJECTIVES: I. Determine differences between persons with repetitive behavior disorders and matched controls on measures of motor control relevant to basal ganglia pathophysiology. II.
- Trial name
- NCT00004300
- Testing
- bromocriptine, sertraline hydrochloride
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Friedreich Ataxia
Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring…
- Trial name
- STEP-OUT FA (NCT07731971)
- Testing
- Laboratory validation session (VSimulator), Home-based active gaming assessment
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Respiratory Distress Syndrome
Study of Energy Requirements in Critically Ill Newborns
OBJECTIVES: I. Determine the total energy expenditure in term and preterm infants in both well and ill states using the doubly labeled water method.
- Trial name
- NCT00006274
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Occasional Hair Loss
Evaluation of the Dietary Supplement Effect on Improvement of Hair Condition in Subjects With Occasional Hair Loss.
The goal of this study is to learn if dietary supplement works to help with improving hair condition in subjects with occasional hair loss. It will also learn about its safety.
- Trial name
- NCT07835646
- Testing
- Dietary supplement for hair loss
- Where
- Spain
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Lacer S.A.
Inherited Hematological Diseases, Rare Diseases
Longitudinal Studies of Patient With FPDMM
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1.
- Conditions
- Inherited Hematological Diseases, Rare Diseases, FPDMM
- Trial name
- NCT03854318
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cannabis
A Study of Ingested Cannabidiol in Healthy Occasional Cannabis Users
The purposes of this study are 1) to determine if the administration of different low doses of oral CBD (20 mg, 50 mg, 100 mg and 200 mg) result in detectable subjective pleasant drug effect compared to placebo and 2) to…
- Trial name
- NCT05407285
- Testing
- Cannabis 20 mg,, Cannabis 50 mg, Cannabis 100 mg
- Where
- Canada
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Rare Diseases
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
- Trial name
- NCT04152876
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Hereditary Multiple Osteochondromas
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and…
- Trial name
- MAMBO (NCT06703736)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
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
Skin Diseases, Penile Diseases
Rare Benign Lesion of Peins
PEKMB was first named and described by Lortat-Jacob \& Civatte in 1961 and by Bart \& Kopf later. This rare condition is mostly reported in elderly males. The keratotic scales is usually micaceous and resembles psoriasis.
- Trial name
- NCT04725292
- Where
- Egypt
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Assiut University
Genetic Eye Disease
Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes.
- Trial name
- NCT02471287
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Inborn Errors of Metabolism, Rare Diseases
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare…
- Trial name
- BUSARD (NCT06360913)
- Testing
- High resolution mass spectrometry
- Where
- 4 sites in Belgium
- Volunteers
- 2,286 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Duchenne Muscular Dystrophy, Burden, Dependency
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease.
- Conditions
- Duchenne Muscular Dystrophy, Burden, Dependency, Disability Physical, Disease Management
- Trial name
- NCT03680365
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Jett Foundation, Inc.
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Hereditary Hemorrhagic Telangiectasia (HHT)
Frequency of Common Medical Conditions in People With and Without HHT
Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people. The purpose of this study is to provide data regarding the frequency of common health conditions and the tolerability of therapies in HHT by using a…
- Trial name
- NCT02464644
- Testing
- Questionnaire
- Where
- United Kingdom
- Volunteers
- 2,174 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux