Clinical trials: Orphan Diseases
Limb Girdle Muscular Dystrophy Type 2C, Gamma-sarcoglycanopathy
Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C
The purpose of this trial is to study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C (gamma-sarcoglycanopathy).
- Trial name
- NCT01344798
- Testing
- AAV1-gamma-sarcoglycan vector injection
- Where
- France
- Volunteers
- 9 people
- Sponsor
- Genethon
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Fanconi Anemia Complementation Group A
Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
This is an open-label Phase II clinical trial to evaluate the efficacy of a hematopoietic cell-based gene therapy for pediatric patients with Fanconi Anemia, subtype A (FA-A).
- Trial name
- NCT04069533
- Testing
- RP-L102
- Where
- 2 sites in Spain, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Rocket Pharmaceuticals Inc.
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
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Netherton Syndrome
Clinical Trial Using Humira in Netherton Syndrome
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment…
- Trial name
- AntiTNF-SN (NCT02113904)
- Testing
- Adalimumab
- Where
- France
- Volunteers
- 11 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Early Childhood Development (ECD)
Evaluation of an Early Childhood Development Intervention Among Children Born to HIV-Infected Women in Eswatini
With increased use of effective strategies to prevent HIV transmission from women to their infants, the number of HIV infected children has dramatically decreased.
- Trial name
- NCT04114305
- Testing
- ECD Intervention
- Volunteers
- 431 people
- Sponsor
- Johns Hopkins Bloomberg School of Public Health
Gingival Disease Due to Bacteria
Oral Health Status and Diet History Analysis Among Orphan House Children From 10-14 Years in Cairo Governorate.
the purpose of study to determine oral health status and dietary habits among group of orphan children from 10-14 years in Cairo Governorate.
- Trial name
- NCT04167826
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Cairo University
HIV Infection, HIV Infections
Reassessment of the Nutritional Status in Thai Orphans Living With HIV in a Family Style Community
To reassess nutritional status of HIV-infected Thai children living in the family style community after receiving nutrition support program for 6 months.
- Trial name
- TACHIN003-1 (NCT01002612)
- Where
- Thailand
- Volunteers
- 73 people
- Sponsor
- Thai Red Cross AIDS Research Centre
Dysmorphology, Orphan Diseases
Characterization and Recognition of Genetic Diseases by Photography
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients.
- Trial name
- AIDY (NCT06225141)
- Testing
- Clinical Data reuse
- Where
- France
- Volunteers
- 935 people
- Sponsor
- Imagine Institute
Inborn Errors of Metabolism
Orphan Drugs for Inherited Metabolic Diseases
The aim of this study is to report and describe all the patients with confirmed diagnosis of inherited metabolic disease (IMD) treated with orphan medicinal products (OMPs) in a cohort of adult patients followed in a reference…
- Trial name
- NCT05818566
- Where
- Switzerland
- Volunteers
- 39 people
- Sponsor
- University of Lausanne
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
Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
The primary objectives of the study are to assess the mass balance recovery after a single dose of carbon-14 [14C]-A4250 as a capsule and to provide plasma, urine and faecal samples for metabolite profiling and structural…
- Conditions
- Orphan Cholestatic Liver Diseases, Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome, Primary Biliary Cirrhosis
- Trial name
- NCT03082937
- Testing
- 3 mg [14C]-A4250 capsule
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Albireo
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Posttraumatic Stress Disorder, Depression
Narrative Exposure Therapy Versus Group Interpersonal Psychotherapy
The present study is a pragmatic trial that investigates the efficacy and usefulness of two treatment modules in a sample of Rwandan genocide orphans: Narrative Exposure Therapy (NET) versus group-Interpersonal Psychotherapy…
- Conditions
- Posttraumatic Stress Disorder, Depression, Narrative Exposure Therapy, Interpersonal Psychotherapy
- Trial name
- NCT00623298
- Testing
- Narrative Exposure Therapy, group IPT, 6 months-baseline
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Konstanz
Autoimmune Hepatitis
Effect of JKB-122 on Prednisolone and Azathioprine Induced Remission in Autoimmune Hepatitis (AIH)
This is a Phase 2 study. All patients will receive prednisolone and AZA as standard of care (SOC) during the study. At the end of the study, all data collected will be analyzed the efficacy and safety of JKB-122 on SOC reduction…
- Trial name
- NCT04371718
- Testing
- JKB-122
- Volunteers
- 120 people
- Sponsor
- TaiwanJ Pharmaceuticals Co., Ltd
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
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)