Clinical trials: Rheumatologic Disease
Dystrophic Epidermolysis Bullosa
Prospective, Longitudinal Natural History Study in Dystrophic Epidermolysis Bullosa
The objective of this study is to characterize the extent and severity of disease in subjects with DEB and the progression of disease over a timeframe relevant to interventional studies.
- Trial name
- NCT01768026
- Where
- United States
- Sponsor
- Lotus Tissue Repair, Inc.
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University
Epidermolysis Bullosa, Junctional Epidermolysis Bullosa
A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
The goal of this clinical trial is to learn if Oleogel-S10 gel works to treat skin wounds from two types of inherited epidermolysis bullosa (EB): junctional EB (JEB) or dystrophic EB (DEB) in the Japanese population.
- Conditions
- Epidermolysis Bullosa, Junctional Epidermolysis Bullosa, Epidermolysis Bullosa, Dystrophic, Epidermolysis Bullosa, Junctional
- Trial name
- REVIVE (NCT06917690)
- Testing
- Oleogel-S10
- Where
- 6 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Osteogenesis Imperfecta
Boost Brittle Bones Before Birth
An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of…
- Trial name
- BOOSTB4 (NCT03706482)
- Testing
- BOOST cells
- Where
- Sweden
- Volunteers
- 18 people
- Sponsor
- Karolinska Institutet
Dystrophic Epidermolysis Bullosa
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis…
- Trial name
- NCT05529134
- Testing
- PTW-002 10 mg/g gel
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Phoenicis Therapeutics
Dystrophic Epidermolysis Bullosa, Wound Heal
Effect of Ev.FV on Wound Healing in Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a hereditary disease of skin tissues that causes painful bleeding blisters in the skin and mucous membrane. The prevalence of this disease is 1 in 50,000.
- Trial name
- NCT07230223
- Testing
- Ev.FV 1.0 x 1011 par/ml
- Where
- Iran
- Volunteers
- 20 people
- Sponsor
- Isfahan University of Medical Sciences
Alport Syndrome
Genotype-Phenotype Correlations in Patients With Alport Syndrome
Alport syndrome (AS) is caused by pathogenic variants in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these…
- Trial name
- NCT04947813
- Where
- China
- Volunteers
- 8,165 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Recessive Dystrophic Epidermolysis Bullosa
A Pilot Study to Evaluate a Temporary Skin Substitute (Spincare® Matrix) for Wound Healing in RDEB Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is a subtype of epidermolysis bullosa (EB), an inherited skin condition that presents with blistering skin.
- Trial name
- RDEB (NCT05944250)
- Testing
- Spincare matrix
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Stanford University
Recessive Dystrophic Epidermolysis Bullosa
Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most severe rare inherited skin disorders affecting children and adults.
- Trial name
- RDEB (NCT01874769)
- Testing
- Blood collection, Skin biopsies
- Where
- 3 sites in France, United Kingdom
- Volunteers
- 30 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Systemic Lupus Erythematosus
Telehealth CBT for Adolescents and Young Adults With Childhood-onset Systemic Lupus Erythematosus
This study aims to investigate the feasibility and effectiveness of a remotely delivered psychological intervention for youth with cSLE.
- Trial name
- cSLE (NCT04335643)
- Testing
- TEACH
- Where
- 2 sites in United States, Canada
- Volunteers
- 65 people
- Sponsor
- Michigan State University
Osteogenesis Imperfecta
Osteogenesis Imperfecta and Balance
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. Its severity may be mild to severe.
- Trial name
- NCT06010134
- Testing
- Physical Therapy Program
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- South Valley University
Alport Syndrome Patients With eGFR Between 45-90 ml/Min/1.73 m2
ATHENA: Natural History of Disease Study in Alport Syndrome Patients
There is limited published clinical data about the natural history of renal disease in Alport syndrome. The RG012-01 study will collect data to characterize the progression of renal dysfunction in Alport syndrome patients.
- Trial name
- RG012-01 (NCT02136862)
- Where
- 15 sites in United States, Australia and 4 more
- Volunteers
- 165 people
- Sponsor
- Genzyme, a Sanofi Company
Osteogenesis Imperfecta
Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
This is a prospective, multicenter, single-arm study in children 2 to 17 years of age with OI to evaluate efficacy and safety of denosumab.
- Trial name
- OI (NCT02352753)
- Testing
- Denosumab
- Where
- 49 sites in United States, Australia and 11 more
- Volunteers
- 153 people
- Sponsor
- Amgen
Osteogenesis Imperfecta
Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
We propose a longitudinal study of the natural history of types III and IV osteogenesis imperfecta for children age birth to 25 years.
- Trial name
- NCT00001594
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Ehlers-Danlos Syndrome, Pain
Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome
This study will assess the effectiveness of mind-body therapy in relieving pain in patients with Ehlers-Danlos syndrome. This syndrome is a hereditary condition caused by a connective tissue defect and is often associated with…
- Trial name
- NCT00001966
- Testing
- Mind-body therapy
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Osteogenesis Imperfecta
Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a rare genetic disorder of increased bone fragility and low bone mass. It is conceivable that children and adolescents with OI are less active than healthy peers because of frequent fractures…
- Trial name
- MOVE-OI (NCT04119388)
- Testing
- Adapted sports practices
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Marfan Syndrome, Turner Syndrome
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of…
- Conditions
- Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Trial name
- GenTAC (NCT01322165)
- Where
- 7 sites in United States
- Volunteers
- 3,706 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Osteogenesis Imperfecta
Results of Telescoping Nail In OI; a Case Series
Assess the postoperative functional outcomes after surgical correction of skeletal deformities of lower limbs in osteogenesis imperfecta patients as regard ambulation status, postoperative complications and reoperation rate.
- Trial name
- NCT04694144
- Testing
- telescoping intramedullary nail
- Where
- Egypt
- Volunteers
- 22 people
- Sponsor
- Assiut University
Dystrophic Epidermolysis Bullosa
A Follow-up Study to Evaluate the Efficacy and Safety of ALLO-ASC-DFU in ALLO-ASC-EB-101 Clinical Trial
This is an open-label follow up study to evaluate the safety for the subjects with ALLO-ASC-DFU treatment in phase 1/2 clinical trial(ALLO-ASC-EB-101) for 24 months.
- Trial name
- NCT03183934
- Testing
- ALLO-ASC-DFU
- Where
- South Korea
- Volunteers
- 2 people
- Sponsor
- Anterogen Co., Ltd.