Clinical trials: Orphan Diseases
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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)
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.
LIPIN1 Deficiency
Acute Rhabdomyolysis and Muscle Pain Associated With Mutations in the LPIN1 Gene - A Retrospective Study Describing the Safety and Efficacy of Hydroxychloroquine Sulfate Given on a Compassionate Basis to Patients Suffering From Lipin-1 Deficiency
Lipin-1 deficiencies are responsible for severe rhabdomyolysis and muscle pain in childhood. A specific treatment does not exist.
- Trial name
- LIPIN-1-METAB (NCT04007562)
- Testing
- Hydroxychloroquine Sulfate
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Posttraumatic Stress Disorder, Depression
A Randomized Controlled Clinical Trial With Orphans and Widows Who Experienced the Rwandan Genocide
In the framework of the epidemiological study, local psychologists are trained in Butare in carrying out diagnostic interviews with orphans and widows who experienced the Rwandan genocide.
- Conditions
- Posttraumatic Stress Disorder, Depression, Prolonged Grief Disorder
- Trial name
- NCT00553956
- Testing
- Narrative Exposure Therapy/Interpersonal Psychotherapy
- Where
- Rwanda
- Volunteers
- 150 people
- Sponsor
- University of Konstanz
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
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
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
Dental Caries, Knowledge, Attitudes, Practice
Oral Health Educational Program on Oral Hygiene Knowledge and Practices in a Group of Orphan Children
An orphan is defined as "a child under the age of 18 whose mother, father, both parents, and a primary caregiver has died, and who is in need of care or protection".
- Trial name
- NCT06897956
- Testing
- Oral health educational program
- Where
- Egypt
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Cairo University
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
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 immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
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
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
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
Ewing Sarcoma, Ewing Family of Tumors
A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide
The goal of this clinical trial was to compare participants with first relapse or refractory Ewing's sarcoma when treated with investigational product (Vigil) in addition to the standard treatment of irinotecan and temozolomide…
- Conditions
- Ewing Sarcoma, Ewing Family of Tumors, Ewing's Tumor Metastatic, Ewing's Sarcoma Metastatic
- Trial name
- VITA (NCT03495921)
- Testing
- Vigil, Irinotecan, Temozolomide
- Where
- 15 sites in United States
- Volunteers
- 32 people
- Sponsor
- Gradalis, Inc.
Homozygous Familial Hypercholesterolemia
Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects
The available medications used to treat HoFH are targeted at reducing circulating levels of total and LDL-cholesterol. These measures can retard the progression of cardiovascular disease, however, they are unlikely to regress…
- Trial name
- MODE (NCT01412034)
- Testing
- CER-001
- Where
- 9 sites in United States, Canada and 3 more
- Volunteers
- 23 people
- Sponsor
- Cerenis Therapeutics, SA
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
CDKL5 Deficiency Disorder (CDD)
International CDKL5 Registry
Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures.
- Trial name
- NCT04486768
- Testing
- Survey Instrument
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of Pennsylvania
Depression, Anxiety
Effect of the MindUP Program on Depression, Anxiety, and Stress in Pakistani Orphan Adolescents
This study evaluates the effectiveness of the MindUP mindfulness-based program in reducing depression, anxiety, and stress among orphan adolescents in Pakistan.
- Conditions
- Depression, Anxiety, Stress
- Trial name
- MINDUP-PAK (NCT07468994)
- Testing
- MindUP Program
- Where
- Pakistan
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Quaid-e-Azam University
Dental Plaque, Gingival Diseases
Effectiveness of Dental Health Education Methods on Oral Hygiene, Oral Health Care Self-Efficacy and Self-Esteem of Young Orphans
Background: Orphan children are at higher risk of developing oral diseases, compared to non-orphans. They also face various emotional, social, and psychological distresses which affect their general as well as oral health.
- Conditions
- Dental Plaque, Gingival Diseases, Oral Health, Self Efficacy
- Trial name
- NCT07771634
- Testing
- Conventional dental health education, Game based dental health education, Peer-group based dental health education
- Where
- Egypt
- Volunteers
- 264 people
- Sponsor
- Alexandria University