Clinical trials: Skin Dysplasia
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
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
Preterm Birth, Ventilator Lung; Newborn
Cerebral Oxygenation in Preterm Neonates with Respiratory Support During Skin-to-skin Care on the First Day After Birth
This is a prospective observational pilot study investigating if skin-to-skin care (SSC) has an influence on cerebral oxygenation and perfusion measured with near-infrared spectroscopy (NIRS) compared to incubator care in…
- Trial name
- Kangaroo (NCT04865302)
- Testing
- SSC
- Where
- Austria
- Volunteers
- 43 people
- Sponsor
- Medical University of Graz
HIV, AIDS
HIV Indicator Diseases Survey Across Europe - UK Arm
In Europe many patients infected with HIV remain undiagnosed, although this percentage varies between 15-80% across the continent. In the UK it is estimated to be 27%.
- Conditions
- HIV, AIDS, Indicator Diseases/Indicator Conditions
- Trial name
- NCT01196468
- Testing
- HIV test (serological or salivary), Interview
- Where
- 2 sites in United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- Chelsea and Westminster NHS Foundation Trust
Breast Cancer, Kidney Cancer
Combination Chemotherapy and Total-Body Irradiation Before Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematologic Cancer, Metastatic Breast Cancer, or Kidney Cancer
RATIONALE: Giving low doses of chemotherapy and radiation therapy before a donor umbilical cord blood stem cell transplant helps stop the growth of cancer cells.
- Conditions
- Breast Cancer, Kidney Cancer, Leukemia, Lymphoma
- Trial name
- NCT00365287
- Testing
- anti-thymocyte globulin, cyclophosphamide, cyclosporine
- Volunteers
- 148 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
X-linked Hypohidrotic Ectodermal Dysplasia
Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
The goal of the ECP-002e extension study is to continue the evaluation of all EDI200-treated ECP-002 subjects up to age 10 yrs. No additional study drug administration is planned.
- Trial name
- ECP-002e (NCT01992289)
- Testing
- EDI200
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 10 people
- Sponsor
- Edimer Pharmaceuticals
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
Hyper-IgM Syndrome, Ectodermal Dysplasia
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include: 1.
- Trial name
- NCT00266513
- Where
- United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
X-Linked Hypohidrotic Ectodermal Dysplasia
Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
The proposed natural history study will enroll male and female patients, ages 36 months and younger, who have a diagnosis of XLHED based on genetic testing and who have not received an investigational study drug.
- Trial name
- ECP-015 (NCT02099552)
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 150 people
- Sponsor
- Edimer Pharmaceuticals
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
Osteoarthritis, Hip, Joint Deformities, Acquired
Efficacy of Aquamantys for Reducing Transfusions With Anterior Supine Intermuscular Approach Total Hip Arthroplasty
The purpose of this study is to establish whether or not there is a clinical advantage to the use of Aquamantys® System from Medtronic Advanced Energy (formerly Salient Surgical Technologies) in patients undergoing primary total…
- Conditions
- Osteoarthritis, Hip, Joint Deformities, Acquired, Hip Dislocation, Congenital, Osteonecrosis
- Trial name
- Aquamantys (NCT01583465)
- Testing
- Aquamantys, standard electrocautery (Bovie)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Joint Implant Surgeons, Inc.
Focal Dermal Hypoplasia
Growth Arrest in Focal Dermal Hypoplasia
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities.
- Trial name
- NCT02463656
- Volunteers
- 16 people
- Sponsor
- University of Colorado, Denver
X-Linked Hypohidrotic Ectodermal Dysplasia
Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
This Phase 2 first-in-neonate EDI200 study will enroll treatment-naïve, XLHED-affected male newborns in the first two weeks of life.
- Trial name
- ECP-002 (NCT01775462)
- Testing
- EDI200
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 6 people
- Sponsor
- Edimer Pharmaceuticals
Cervical Intraepithelial Neoplasia (CIN), Genital Warts
Impact of HPV Vaccination Against Cervical Lesions and Genital Warts in Colombia. an Ecological Assessment
The goal of this observational study is to assess the impact of HPV vaccination on cervical lesions and genital warts in Colombian birth cohorts.
- Conditions
- Cervical Intraepithelial Neoplasia (CIN), Genital Warts, Papillomavirus Infections, Cervical Cancers
- Trial name
- NCT06700941
- Testing
- HPV vaccine
- Where
- Colombia
- Volunteers
- 8,000,000 people
- Sponsor
- Universidad Nacional de Colombia
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
Melanoma, Dysplastic Nevi
Family Study of Melanoma in Italy
During the course of a case-control study of melanoma conducted at the Bufalini Hospital, Cesena, Italy in the years 1994-1996, 20 families with 2 or 3 melanoma cases were identified and studied.
- Conditions
- Melanoma, Dysplastic Nevi, Melanocytic Nevi
- Trial name
- NCT00339222
- Where
- 7 sites in Italy, Spain
- Volunteers
- 1,708 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
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