rare disease
Showing 1 - 25 of >10,000
Epilepsy, Rare Diseases Trial (Cannabidiol oral solution)
Not yet recruiting
- Epilepsy
- Rare Diseases
- Cannabidiol oral solution
- (no location specified)
Mar 27, 2023
Early Onset Genetic Conditions With Near Complete Penetrance Trial in New York (Genome sequencing-based newborn screening)
Recruiting
- Early Onset Genetic Conditions With Near Complete Penetrance
- Genome sequencing-based newborn screening
-
New York, New YorkColumbia University Irving Medical Center/NYP
Aug 10, 2023
Gaucher Disease Trial (Investigational procedure)
Not yet recruiting
- Gaucher Disease
- Investigational procedure
- (no location specified)
Jun 8, 2023
SARS-COV2 Pandemic Serosurvey in a Rare Disease Population
Completed
- SARS-COV2 Virus
-
Bethesda, Maryland
- +1 more
Dec 16, 2022
Rare Diseases, Genetic Disease Trial in Angers (Skin biopsy, blood sample, urine sample)
Recruiting
- Rare Diseases
- Genetic Disease
- Skin biopsy, blood sample, urine sample
-
Angers, FranceCentre Hospitalo-Universitaire d'Angers
Aug 10, 2022
Non-adherence in Adults With Rare Disease
Withdrawn
- Cystic Fibrosis
- +5 more
- MAR-Scale
- (no location specified)
May 7, 2022
Rare Diseases Trial in Switzerland
Recruiting
- Rare Diseases
-
Basel, Switzerland
- +5 more
Dec 16, 2021
Peripartum Cardiomyopathy Trial (Molecular and genetic screening)
Not yet recruiting
- Peripartum Cardiomyopathy
- Molecular and genetic screening
- (no location specified)
May 18, 2023
Engagement in Physical Activities and Sports in Diaphragmatic
Not yet recruiting
- Congenital Diaphragmatic Hernia
- (no location specified)
Dec 23, 2022
Becker Muscular Dystrophy Trial in Atlanta (EDG-5506)
Enrolling by invitation
- Becker Muscular Dystrophy
-
Atlanta, GeorgiaRare Disease Research
Sep 27, 2023
Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)
Not yet recruiting
- Sickle Cell Disease
- Interview
-
Memphis, TennesseeSt. Jude Children's Research Hospital
Mar 30, 2023
AFFINITY BEYOND: Anti-AAV8 Antibody Assessment Study of Boys
Recruiting
- Duchenne Muscular Dystrophy
- AAV8 DetectCDx
-
Atlanta, GeorgiaRare Disease Research
Jan 12, 2023
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
Recruiting
- Fabry Disease
-
Rockville, Maryland
- +1 more
Sep 29, 2023
Study of Retinal Dystrophies Associated With Rare
Active, not recruiting
- Inherited Retinal Degeneration
- Retinitis Pigmentosa
-
Phoenix, Arizona
- +23 more
Jan 24, 2023
Structural Chromosome Rearrangements and Brain Disorders
Enrolling by invitation
- Rare Diseases
- +2 more
-
Stockholm, SwedenAnna Lindstrand
Oct 2, 2023
Parkinson Disease Trial in Pozzilli (targeted resequencing)
Recruiting
- Parkinson Disease
- targeted resequencing
-
Pozzilli, ItalyIRCCS Neuromed
Sep 27, 2022
Immunohistochemical, Histological and Radiological Factors in
Not yet recruiting
- Rare Disease With Poor Outcome
- (no location specified)
Apr 20, 2022
Outcome of Melorheostosis A Rare Osteosclerotic Disease
Recruiting
- Rheumatic Disease
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 18, 2023
Hyperferritinemia Candidate Gene
Recruiting
- Hyperferritinemia
- Genetic analysis
-
Monza, MB, ItalyCentre for Rare Disease - Disorders of Iron Metabolism, ASST-Mon
Jan 17, 2023
UW Undiagnosed Genetic Diseases Program
Recruiting
- Rare Diseases
- +2 more
- Trio Whole Genome Sequencing and Participant-Specific Research
-
Madison, WisconsinUniversity of Wisconsin School of Medicine and Public Health
Nov 4, 2022
Exome/ Genome Sequencing, Conventional Methods in Rare Diseases
Recruiting
- Rare Diseases
- Genetic Predisposition
- Retrospective data analysis
-
Tübingen, GermanyUniversity Hospital Tübingen
Nov 3, 2022
OligoMetastatic Patients From Rare Tumors
Not yet recruiting
- Oligometastatic Disease
- SBRT
-
Rozzano, Milan, ItalyHumanitas Research Hospital
Jun 5, 2023
Erythropoietic Protoporphyria)
Completed
- Erythropoietic Protoporphyria (EPP)
-
Birmingham, AlabamaThe University of Alabama at Birmingham
Jun 22, 2021
Primary Hyperoxaluria, Cystinuria, Adenine Phosphoribosyl Transferase Deficiency Trial in Rochester, New York, Reykjavik
Completed
- Primary Hyperoxaluria
- +3 more
- Health-related Quality of Life in Rare Kidney Stone Questionnaire
-
Rochester, Minnesota
- +2 more
Aug 31, 2022