Clinical trials: Orphan Diseases
Psoriasis
Study of Safety and Efficacy of Topical GSK2981278 Ointment in Plaque Psoriasis
GSK2981278 is a highly potent and selective inverse agonist of retinoic acid receptor-related orphan receptor gamma (ROR gamma) that is under development for topical treatment of plaque type psoriasis suitable for topical…
- Trial name
- NCT02548052
- Testing
- GSK2981278 0.03%, GSK2981278 0.1%, GSK2981278 0.8%
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- GlaxoSmithKline
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
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
Colorectal Neoplasms, Secondary
Study of Genetic Polymorphisms of Drug Transporters and Orphan Nuclear Receptors on Treatment Effects of Irinotecan
From 100 colorectal cancer patients being treated with FOLFIRI regimen or any kind of irinotecan containing regimen, blood samples for irinotecan and its metabolites levels and genotypes related with its metabolism will be…
- Trial name
- NCT00507143
- Testing
- irinotecan
- Where
- South Korea
- Volunteers
- 100 people
- Sponsor
- National Cancer Center, Korea
Skin Fibrosis
Open Label Extension (OLE) for the Patients Treated in the ISD002-P144-07 Study
Transforming growth factor-beta 1 is consistently over expressed in most fibrotic diseases and displays a variety of profibrotic effects in fibroblasts(25, 26).
- Trial name
- NCT00781053
- Testing
- P144 cream
- Where
- 17 sites in Germany, Hungary and 4 more
- Volunteers
- 38 people
- Sponsor
- ISDIN
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
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
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
Narcolepsy
Safety and Efficacy of Xyrem Oral Solution (Sodium Oxybate) Compared With Placebo in Narcoleptic Patients
The initial portion of the protocol involves discontinuing any medications for cataplexy that the patient may be taking. Subsequently, the patient is prescribed a dose of oral solution of study drug or placebo over a 10-11 week…
- Trial name
- NCT00049803
- Testing
- sodium oxybate
- Where
- 45 sites in United States, Canada and 1 more
- Volunteers
- 200 people
- Sponsor
- Orphan Medical
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.
Poverty, Orphaned Children
Bridges to the Future: Economic Empowerment for AIDS-Orphaned Children in Uganda
Bridges to the Future: Economic Empowerment for AIDS-Orphaned Children in Uganda, represents the first study that measures medium-term efficacy and cost-effectiveness of a family economic empowerment intervention for…
- Conditions
- Poverty, Orphaned Children, AIDS Orphans
- Trial name
- NCT01447615
- Testing
- Bridges, Bridges PLUS, Usual Care
- Where
- Uganda
- Volunteers
- 1,410 people, healthy volunteers welcome
- Sponsor
- Columbia University
Hereditary Angioedema
C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation
The study hypothesis is that treatment of Hereditary Angioedema at the time of prodromal symptoms will decrease morbidity associated with the disease
- Trial name
- NCT01151735
- Testing
- C-1-esterase
- Sponsor
- Penn State University
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
Diabetes Mellitus, Type 2
Effect of Training Intensity on Health Outcomes in Diabetes
The project will investigate high intensity interval training on the glucose regulation in type 2 diabetic subjects compared to moderate continuous exercise.
- Trial name
- NCT03349944
- Testing
- Training
- Where
- Denmark
- Volunteers
- 45 people
- Sponsor
- Morten Hostrup, PhD
Amyotrophic Lateral Sclerosis
RAPA-501 Therapy of ALS Expanded Access Protocol
RAPA-501-ALS is an Intermediate-Size Expanded Access Trial of RAPA-501 autologous hybrid TREG/Th2 T stem cells in patients living with amyotrophic lateral sclerosis (pwALS).
- Trial name
- NCT06169176
- Testing
- RAPA-501 Autologous T stem cells
- Where
- 10 sites in United States
- Sponsor
- Rapa Therapeutics LLC
Advanced/Metastatic Solid Tumors, Relapse/Refractory Lymphoma
First in Human Study of EMB-07 in Locally Advanced/Metastatic Solid Tumors or Relapse/Refractory Lymphoma
For solid tumors and lymphoma, respectively: This study is to evaluate the safety and tolerability of EMB-07 and to determine the maximum tolerated dose (MTD) and/or recommended Phase 2 dose (RP2D).
- Trial name
- NCT05607498
- Testing
- EMB07
- Where
- 10 sites in Australia, China
- Volunteers
- 150 people
- Sponsor
- EpimAb Biotherapeutics (Suzhou)Co., Ltd.
HIV/AIDS
Bridges2Scale: Testing Implementation Strategies
The goal of this clinical trial is to compare two multifaceted strategies (standard vs enhanced) for scaling Bridges in a two-arm Hybrid III effectiveness-implementation cluster randomized controlled trial (RCT) in adolescent and…
- Trial name
- NCT06347146
- Testing
- Financial Literacy Training (FLT) workshops, Mentorship, Income Generation Activity (IGA)
- Where
- Uganda
- Volunteers
- 1,440 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
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.
Dental Caries, Orphaned Children
Evaluation of Oral and Dental Health of Institutionalized Orphan Children Residing in Children's Homes in Turkey
Both dental caries prevalence and periodontal status of children residing in children's homes in Sivas province of Turkey were evaluated.
- Conditions
- Dental Caries, Orphaned Children, Periodontal Index
- Trial name
- NCT06725654
- Testing
- Diagnostic Procedures
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Cumhuriyet University