107 studies found for:    "skeletal dysplasias" OR "geleophysic dysplasia"
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Rank Status Study
1 Completed Study of Skeletal Disorders and Short Stature
Conditions: Developmental Bone Disease;   Dwarfism;   Skeletal Dysplasias
Intervention:
2 Enrolling by invitation Identification and Characterization of Bone-related Genetic Variants in Families
Condition: Skeletal Dysplasia
Intervention: Other: Samples With DNA
3 Terminated Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Conditions: Mucopolysaccharidoses;   Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis IV;   Mucopolysaccharidosis VI
Intervention: Other: Dried blood spot test for MPS
4 Available Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant
Conditions: Acute Lymphoblastic Leukemia;   Acute Myeloid Leukemia;   Chronic Myeloid Leukemia;   Myelodysplastic Syndrome;   Lymphomas;   Bone Marrow Failure;   Hemoglobinopathy;   Immune Deficiency;   Osteopetrosis;   Cytopenias;   Leukocyte Disorders;   Anemia Due to Intrinsic Red Cell Abnormality
Intervention: Biological: CD34+ enriched, T Cell Depleted donor stem cell product
5 Enrolling by invitation Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox
Condition: Cartilage-hair Hypoplasia
Intervention: Biological: Varilrix
6 Recruiting A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
Conditions: Mucopolysaccharidosis IV Type A;   Morquio A Syndrome;   MPS IVA
Intervention: Drug: Vimizim® (elosulfase alfa)
7 Active, not recruiting Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)
Conditions: Morquio A Syndrome;   Mucopolysaccharidosis IV A
Intervention:
8 Withdrawn Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa
Conditions: Mucopolysaccharidosis IV;   Morquio A Disease
Intervention:
9 Completed Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
Conditions: Morquio Syndrome A;   Maroteaux Lamy Syndrome;   MPS IVA;   MPS VI
Intervention:
10 Unknown  Gait Analysis in MPS IVA
Conditions: MPS IVA;   Morquio Syndrome
Intervention:
11 Recruiting Longitudinal Studies of Brain Structure and Function in MPS Disorders
Conditions: Mucopolysaccharidosis Type I;   Mucopolysaccharidosis Type II;   Mucopolysaccharidosis Type VI;   Mucopolysaccharidosis Type IV;   Mucopolysaccharidosis Type VII
Intervention:
12 Completed Psychological Concomitants of Morquio Syndrome (The MAP Study)
Conditions: Morquio Disease;   Mucopolysaccharidosis IV
Intervention:
13 Completed Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Conditions: Mucopolysaccharidosis IV A;   Mucopolysaccharidosis VI
Intervention: Other: Enzyme testing
14 Completed Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Condition: Rubinstein-Taybi Syndrome
Interventions: Drug: sodium valproate;   Drug: Placebo
15 Recruiting Biomarker for Morquio Disease
Conditions: Lysosomal Storage Diseases;   Morquio Disease
Intervention:
16 Active, not recruiting Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
Conditions: Mucopolysaccharidosis IV A;   Morquio A Syndrome;   MPS IVA
Interventions: Drug: BMN 110 - Weekly;   Drug: BMN 110 - Every Other Week
17 Terminated A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)
Conditions: MPS IV A;   Mucopolysaccharidosis IVA;   Morquio A Syndrome
Intervention:
18 Terminated Morquio's Syndrome: a Case Study
Condition: Morquio's Disease
Intervention: Other: physiotherapeutic treatment
19 Enrolling by invitation Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy
Conditions: Osteoarthritis;   Osteoporosis;   Osteogenesis Imperfecta;   Rickets / Osteomalacia;   Bone Infection
Intervention: Device: spatially offset Raman spectrometer (SORS)
20 Recruiting Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
Conditions: Osteogenesis Imperfecta;   Brittle Bone Disorders
Intervention: Other: Web-based Survey

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Indicates status has not been verified in more than two years