Clinical trials: Skeletal Dysplasia
Multiple Osteochondroma, Osteogenesis Imperfecta
Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study
In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression.
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta, Ollier Disease, Maffucci Syndrome
- Trial name
- RELOAD (NCT04844697)
- Where
- Italy
- Volunteers
- 15 people
- Sponsor
- Istituto Ortopedico Rizzoli
Fibrodysplasia Ossificans Progressiva (FOP)
A Non-Interventional Study of Clinical Characteristics and Mortality of US Patients With Fibrodysplasia Ossificans Progressiva (FOP)
Primary Objective(s): To describe the demographic characteristics of people living with FOP and a matched cohort of non-FOP people living in the United States (U.S.) To describe the prevalence of clinical characteristics of…
- Trial name
- NCT06064656
- Testing
- Non-Interventional
- Where
- United States
- Volunteers
- 131 people
- Sponsor
- Regeneron Pharmaceuticals
Bone Marrow Diseases
Cytokine Gene Polymorphisms in Bone Marrow Failure
This study will examine whether cytokine gene polymorphisms affect the progression or response to therapy of bone marrow failure disorders.
- Trial name
- NCT00085670
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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)
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Osteogenesis Imperfecta
Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta
The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype.
- Trial name
- AVOI (NCT05419960)
- Testing
- Vestibular Assessment, Petrous bone Computed Tomography (CT), Magnetic Resonance Imaging (MRI)
- Where
- France
- Volunteers
- 44 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fibrous Dysplasia
Study of Denosumab for Prevention of Skeletal Disease Progression in Children With Fibrous Dysplasia
Background: Fibrous dysplasia (FD) is a disease that affects the bones. It causes bone lesions that can become weak and lead to fractures, deformity, and nerve injuries.
- Trial name
- NCT05419050
- Testing
- denosumab
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Autosomal Dominant Osteopetrosis Type 2
Use of ACTIMMUNE in Patients With ADO2
This study is an open label use of ACTIMMUNE for patients with Autosomal Dominant Osteopetrosis Type 2(ADO2). Effects of treatment will be evaluated after 14 weeks on ACTIMMUNE by bone resorption markers.
- Trial name
- NCT02584608
- Testing
- ACTIMMUNE
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Indiana University
Osteogenesis Imperfecta
Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)
Children with osteogenesis imperfecta are described as extremely sedentary and therefore fatigable, which strongly impacts their daily activities.
- Trial name
- NCT02542540
- Testing
- Training with Nintendo Wii console
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Osteogenesis Imperfecta, Brittle Bone Disorders
Pregnancy in Osteogenesis Imperfecta (OI) Registry
The purpose of this study is to learn about pregnancy outcomes in osteogenesis imperfecta (OI). Patients enrolled in the Brittle Bone Disorders (BBD) Contact Registry (CR) will be invited via email to participate in this study.
- Trial name
- NCT03072303
- Testing
- Web-based Survey
- Where
- United States
- Volunteers
- 170 people
- Sponsor
- University of South Florida
Osteochondrodysplasia
Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of SAR442501 in Pediatric Participants With Achondroplasia
This is a Phase 2, open-label, multicenter, study to evaluate safety, tolerability and efficacy of SAR442501 in children from birth up to 12 years of age with Achondroplasia.
- Trial name
- upreACH-2 (NCT06067425)
- Testing
- SAR442501
- Where
- 9 sites in Australia, China and 3 more
- Volunteers
- 16 people
- Sponsor
- Sanofi
Multiple Osteochondromas
Registry of Multiple Osteochondromas
REM is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains…
- Trial name
- REM (NCT04133285)
- Where
- Italy
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Luca Sangiorgi
Achondroplasia
A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia
This is a Phase 3, multicenter, double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of infigratinib in children and adolescents with achondroplasia (ACH) who have completed at least 26 weeks of…
- Trial name
- PROPEL3 (NCT06164951)
- Testing
- Infigratinib 0.25 mg/kg/day
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 114 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
T-cell Depleted Alternative Donor Transplantation
The primary purpose is to determine the ability of CD34+ selection and T cell depletion using the CliniMACS® device to prevent severe acute graft-versus-host disease (GVHD) in patients receiving a stem cell transplant from an…
- Conditions
- Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Myelodysplastic Syndrome
- Trial name
- NCT00968864
- Testing
- CliniMACS® (T cell depletion)
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- Wake Forest University Health Sciences
Achondroplasia
Radiological Analysis on Patients With Achondroplasia Disorder
Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world.
- Trial name
- Achondroplasia (NCT04184817)
- Testing
- Collection of clinical data registered in Easily software
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Hospices Civils de Lyon
Exostoses, Multiple Hereditary
Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC
The purpose of this study is to establish the genetic profile of families in British Columbia with HME.
- Trial name
- NCT00473850
- Where
- Canada
- Volunteers
- 2,000 people
- Sponsor
- University of British Columbia
Osteodysplasia
Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation
Osteodysplasia or poorly formed bones, "brittle bones" is a genetic disease with no known proven treatments. Some forms of osteodysplasia may cause severe disability and even death.
- Trial name
- NCT00186914
- Testing
- Marrow stromal cell infusion
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- St. Jude Children's Research Hospital
Hypospadias
Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces
The aim of this study is to compare prepuce tissue samples from healthy male children who applied for circumcision and children with isolated hypospadias.
- Trial name
- NCT03838458
- Where
- Turkey (Türkiye)
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Trakya University
Fibrous Dysplasia, Fibrous Dysplasia of Bone
Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data
Fibrous dysplasia is a benign, pseudotumoral, genetic but non-hereditary condition characterized by the presence of one or more areas of abnormal bone development in which the normal structure is replaced by fibrous tissue.
- Conditions
- Fibrous Dysplasia, Fibrous Dysplasia of Bone, Fibrous Dysplasia/McCune-Albright Syndrome, Mazabraud Syndrome
- Trial name
- FIBR DYSPLASIA (NCT07569731)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Ortopedico Rizzoli
Bone Marrow Failure, Osteopetrosis
Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
This study proposes the use of a reduced intensity chemotherapy/radiation therapy regimen followed by stem cell transplantation, as compared to standard ablative chemotherapy regimens associated with stem cell transplantation, in…
- Conditions
- Bone Marrow Failure, Osteopetrosis, Fanconi Anemia, Severe Combined Immunodeficiency
- Trial name
- NCT01019876
- Testing
- Fludarabine, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Columbia University