Clinical trials: Skeletal Dysplasia, open to volunteers
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
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
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
Hypochondroplasia
Prospective Clinical Assessment Study in Children With Hypochondroplasia
This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).
- Trial name
- HCH (NCT06410976)
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 150 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Hemifacial Microsomia, Mucormycosis
Clinical Evaluation of Patient-Specific 3D-Printed Titanium Implants for Facial Reconstruction.
This clinical study aims to evaluate the effectiveness of patient-specific 3D-printed titanium facial implants in the reconstruction and aesthetic correction of facial defects.
- Conditions
- Hemifacial Microsomia, Mucormycosis, Oral Squamous Cell Carcinoma, Microgenia
- Trial name
- 3DFACE (NCT07654647)
- Testing
- Patient-specific titanium implants for facial reconstruction
- Where
- Syria
- Volunteers
- 30 people
- Sponsor
- Latakia University
Mucopolysaccharidosis IV Type A, Morquio A Syndrome
Non-invasive Functional Assessment and Pathogenesis of Morquio A
Morquio A disease is a devastating systemic skeletal disease in which detailed progression and pathogenesis remain unknown. The proposed project aims to establish a non-invasive objective assessment that can be applicable to all…
- Conditions
- Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
- Trial name
- NIFAMA (NCT05284006)
- Testing
- Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Nemours Children's Clinic
SAPHO Syndrome
Study of the Efficacy and Safety of Etanercept Treatment in Patients With SAPHO Syndrome
The study includes adult patients with SAPHO syndrome (ORPHA: 793), meeting the modified classification criteria according to Kahn (2003), with the ineffectiveness of standard treatment (patient's global assessment of the disease…
- Trial name
- SAPHO (NCT06011889)
- Testing
- Etanercept
- Where
- Poland
- Volunteers
- 60 people
- Sponsor
- National Institute of Geriatrics, Rheumatology and Rehabilitation, Poland
Rhizomelic Chondrodysplasia Punctata
RCDP Natural History Study
A prospective, longitudinal observational trial in patients with RCDP. Study participants will be evaluated at baseline and approximately every 6 months by the study team.
- Trial name
- NCT04031287
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- MED-LIFE DISCOVERIES LP
Achondroplasia
Achondroplasia Natural History Multicenter Clinical Study
The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. patients with achondroplasia.
- Trial name
- NCT02597881
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- Johns Hopkins University
Fibrous Dysplasia, McCune Albright Syndrome
Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry
The FD/MAS Patient Registry is an IRB-approved research study that that invites the patients and families to help answer some of the biggest questions about FD/MAS by completing questionnaires about their lives with FD or MAS.
- Conditions
- Fibrous Dysplasia, McCune Albright Syndrome, Mazabraud Syndrome
- Trial name
- NCT03231644
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Tovah Burstein
Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
This study will determine the effect of treatment of AGA2115 in adults with Type I, III, or IV osteogenesis imperfecta versus placebo.
- Trial name
- IDUN (NCT07062588)
- Testing
- AGA2115
- Where
- 26 sites in United States, Argentina and 6 more
- Volunteers
- 80 people
- Sponsor
- Angitia Incorporated Limited
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Osteogenesis Imperfecta
BBD Longitudinal Study of Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss.
- Trial name
- NCT02432625
- Where
- 12 sites in United States, Canada
- Volunteers
- 1,000 people
- Sponsor
- Baylor College of Medicine
Osteogenesis Imperfecta
Effects of Bisphosphonates on OI-Related Hearing Loss
Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in…
- Trial name
- NCT04152551
- Testing
- Risedronate Oral Tablet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital for Special Surgery, New York
McCune-Albright Syndrome
Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome
Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone.
- Trial name
- NCT00001727
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Achondroplasia
Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
This is a Phase 2, multicenter, randomized, placebo-controlled study to evaluate the safety and efficacy of infigratinib in participants < 3 years old with ACH.
- Trial name
- NCT07169279
- Testing
- Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 77 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Advanced Solid Tumor, Refractory Hodgkin Lymphoma
An Engineered Sirpα Fused to Anti-Pd-L1 And Tgf-β Fusion Protein (HCB301) in Subjects With Selected Advanced Tumors
The purpose of this study is to find out whether IV injection of HCB301 is an effective treatment for different types of advanced solid tumors and relapsed and refractory classical Hodgkin lymphomas and what side effects…
- Trial name
- NCT06487624
- Testing
- HCB301
- Where
- 7 sites in United States, China and 1 more
- Volunteers
- 50 people
- Sponsor
- FBD Biologics Limited
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company