Clinical trials: Orphan Diseases, open to volunteers
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Lung Diseases, Interstitial, Pulmonary Alveolar Proteinosis
European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank
Generation of a common European database and biobank Continous assessment and implementation of guidelines and treatment protocols Establishment of a large observational cohort of chILD patients Determination the value of…
- Conditions
- Lung Diseases, Interstitial, Pulmonary Alveolar Proteinosis, Pulmonary Eosinophilia, Pulmonary Fibrosis
- Trial name
- chILD-EU (NCT02852928)
- Where
- 3 sites in Germany, Turkey (Türkiye) and 1 more
- Volunteers
- 1,000 people
- Sponsor
- Matthias Griese
Fibrosis Syndrome, Lymphedema
Reversing External-beam Radiotherapy-associated Fibrosis Syndrome: an Interventional Bayesian Adaptive Randomized-controlled Orphan Drug Platform Trial for Orodental Sequelae (Reverse-fibrose)
To find out if adding medication can help treat or prevent lymphedema and/or fibrosis related to radiation therapy, in survivors of head and neck cancer.
- Conditions
- Fibrosis Syndrome, Lymphedema, Head &Amp; Neck Cancer, Fibrosis
- Trial name
- NCT06912763
- Testing
- Pravastatin (drug), Pentoxifylline, ketoprofen
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- M.D. Anderson Cancer Center
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Undiagnosed Conditions, Rare Disorders
Gene Discovery Core, The Manton Center
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions.
- Conditions
- Undiagnosed Conditions, Rare Disorders, Orphan Diseases
- Trial name
- NCT02743845
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Boston Children's Hospital
Dysmorphia, Orphan Diseases
Automatic Phenotyping of Patients on 2D Photography
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Trial name
- AIDY2 (NCT06219421)
- Testing
- Clinical data reuse
- Where
- France
- Volunteers
- 22,000 people
- Sponsor
- Imagine Institute
Emerging Infectious Diseases and Their Treatments
Biological Collection on Emerging Infectious Diseases and Their Treatments
Unprecedented changes in human-environment interactions and increasing disruptions to ecosystems and the climate have contributed to the emergence of infectious diseases (Emerging Infectious Diseases, EIDs).
- Trial name
- COMETE (NCT07674550)
- Where
- France
- Volunteers
- 5,300 people
- Sponsor
- University Hospital, Toulouse
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Amyotrophic Lateral Sclerosis
RAPA-501 Therapy for ALS
RAPA-501-ALS is a phase 2/3 expansion cohort study of RAPA-501 autologous hybrid TREG/Th2 cells in patients living with amyotrophic lateral sclerosis (pwALS).
- Trial name
- NCT04220190
- Testing
- RAPA-501 Autologous T stem cells
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Rapa Therapeutics LLC
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
N-acetylglutamate Synthase (NAGS) Deficiency
Orphan Europe Carbaglu® Surveillance Protocol
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information.
- Trial name
- NCT03409003
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicholas Ah Mew