Clinical trials: Rheumatologic Disease
Osteogenesis Imperfecta
Pamidronate to Treat Osteogenesis Imperfecta in Children
This study will evaluate the effect of pamidronate a drug that decreases bone resorption (breakdown) on osteogenesis imperfecta. This is a genetic disorder of collagen, the major protein in bone.
- Trial name
- NCT00005901
- Testing
- Pamidronate (Aredia)
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
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
Epidermolysis Bullosa
Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa
RATIONALE: In animal models, stem cells have been shown to home to the skin and repair the biochemical and structural abnormalities associated with recessive dystrophic epidermolysis bullosa (RDEB) (collagen 7 deficiency).
- Trial name
- NCT00478244
- Testing
- busulfan, cyclophosphamide, fludarabine phosphate
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Multiple Osteochondroma, Ollier Disease
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy
Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options.
- Conditions
- Multiple Osteochondroma, Ollier Disease, Osteogenesis Imperfecta
- Trial name
- PaS (NCT06397443)
- Testing
- 5-day sailing activity
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Istituto Ortopedico Rizzoli
Keloid, Alopecia Areata
Pain Outcomes Following Intralesional Corticosteroid Injections
Corticosteroid therapy, including intralesional and topical applications, has many indications within the fields of Dermatology, Plastic Surgery, and Orthopedics.
- Conditions
- Keloid, Alopecia Areata, Acne, Hypertrophic Scar
- Trial name
- NCT03630198
- Testing
- Corticosteroid with lidocaine, Corticosteroid with normal saline
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Osteogenesis Imperfecta
Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta
The primary objective of this study is to evaluate the pharmacokinetics (PK) profile following multiple subcutaneous (SC) doses of romosozumab in children and adolescents with Osteogenesis Imperfecta (OI).
- Trial name
- NCT04545554
- Testing
- Romosozumab, Calcium, Vitamin D
- Where
- 15 sites in United States, Austria and 6 more
- Volunteers
- 25 people
- Sponsor
- Amgen
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin for RDEB
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease caused by mutations in the COL7A1 gene that encodes for type VII collagen (C7), the major component of anchoring fibrils…
- Trial name
- NCT03012191
- Testing
- Gentamicin Sulfate
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Epidermolysis Bullosa Dystrophica, Recessive
A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
The purpose of this study is to evaluate the safety of FCX-007, evaluate Type VII collagen (COL7) expression and the presence of anchoring fibrils and to analyze wound healing as a result of FCX-007 administration in subjects…
- Trial name
- NCT02810951
- Testing
- FCX-007
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Castle Creek Biosciences, LLC.
Alport Syndrome
A Study to Evaluate Setanaxib in Patients With Alport Syndrome
The purpose of the study is to learn about the safety and tolerability of setanaxib in subjects with Alport syndrome, when added to their standard of care treatment.
- Trial name
- NCT06274489
- Testing
- Setanaxib
- Where
- 17 sites in Austria, Czechia and 3 more
- Volunteers
- 20 people
- Sponsor
- Calliditas Therapeutics AB
Alport Syndrome
A Study of ELX-02 in Patients With Alport Syndrome
This is a Phase 2 open label pilot study to evaluate the safety and efficacy of subcutaneously administered ELX-02 in patients with X-linked or autosomal recessive Alport Syndrome with Col4A5 and Col4A3/4 nonsense mutation.
- Trial name
- NCT05448755
- Testing
- ELX-02
- Where
- 4 sites in Australia, United Kingdom
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Rheumatologic Disorder, Inflammatory Bowel Diseases
Flu Vaccine Response in Patients on Biologic Therapies
This proposed study will assess the immunogenicity, safety, and clinical efficacy of an influenza vaccine booster dose strategy in patients with autoimmune diseases who are receiving immunosuppressive therapies.
- Conditions
- Rheumatologic Disorder, Inflammatory Bowel Diseases, Immune Complex Diseases
- Trial name
- NCT03277703
- Testing
- Influenza vaccine
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Stony Brook University
Recessive Dystrophic Epidermolysis Bullosa
A Study of FCX-007 for Recessive Dystrophic Epidermolysis Bullosa
The purpose of this study is to determine whether administration of FCX-007 in addition to standard of care improves wound healing as compared to standard of care alone (control) in children, adolescents, and adults with…
- Trial name
- DEFI-RDEB (NCT04213261)
- Testing
- FCX-007 (dabocemagene autoficel; see below for FCX-007 description)
- Where
- 5 sites in United States
- Volunteers
- 6 people
- Sponsor
- Castle Creek Biosciences, LLC.
Alport Syndrome, Kidney Disease
A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome
The goal of the Microalbuminuria in Untreated Boys with Alport Syndrome study is to gather information about critical clinical time points such as when patients with small amounts of protein (microalbuminuria) in their urine…
- Trial name
- MA (NCT00622544)
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- University of Minnesota
Fibrosis, Skin Scarring
Light Emitting Diode-Red Light (LED-RL) Phototherapy for Skin Scarring Prevention
Skin scarring (fibrosis) is a common complication in the wound healing process and remains a therapeutic challenge. Scar formation often occurs following injury to the skin such as surgery, trauma, and burns.
- Conditions
- Fibrosis, Skin Scarring, Skin Wound, Hypertrophic Scar
- Trial name
- NCT03795116
- Testing
- LED-RL phototherapy, Mock irradiation
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- State University of New York - Downstate Medical Center
Epidermolysis Bullosa Dystrophica, Epidermolysis Bullosa
Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
This trial will create a skin graft, which the investigators call "LEAES," using the patient's own skin cells that have been genetically engineered in the lab to express a missing protein called type VII collagen.
- Trial name
- NCT01263379
- Testing
- LZRSE-Col7A1 Engineered Autologous Epidermal Sheets
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Abeona Therapeutics, Inc
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care.
- Trial name
- NCT02698735
- Testing
- Gentamicin
- Volunteers
- 5 people
- Sponsor
- University of Southern California
Dystrophic Epidermolysis Bullosa
Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa
This is a feasibility study to see if Granulocyte Colony Stimulating Factor (GCSF) is effective as a treatment of Dystrophic Epidermolysis Bullosa (EB). Patients will receive one course of treatment with the study drug.
- Trial name
- NCT01538862
- Testing
- Granulocyte Colony Stimulating Factor (GCSF)
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Vanderbilt University Medical Center
Postural Tachycardia Syndrome, Ehlers-Danlos Syndrome
Standing Cognition and Co-morbidities of POTS Evaluation
The purpose of this study is to evaluate cognition in patients with postural tachycardia syndrome (POTS) while lying down and standing and to assess the prevalence of hypermobile Ehlers-Danlos Syndrome in POTS.
- Trial name
- SCOPE (NCT03602482)
- Testing
- Standing, Supine
- Where
- United States
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Milton S. Hershey Medical Center