Clinical trials: Morquio's Disease
Abdominal Massage, Enteral Nutrition
Effect of Abdominal Massage on Gastrointestinal Symptoms After Head and Neck Cancer Surgery
This study aimed to evaluate whether abdominal massage could reduce abdominal pain, constipation, and gas/bloating in patients receiving enteral nutrition through a nasogastric tube after surgery for head and neck cancer.
- Conditions
- Abdominal Massage, Enteral Nutrition, Nasogastric Feeding, Head and Neck Surgery
- Trial name
- HNC-AM (NCT07889011)
- Testing
- Abdominal Massage
- Where
- Turkey (Türkiye)
- Volunteers
- 70 people
- Sponsor
- Maltepe University
Mucopolysaccharidosis Type IVA
Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body.
- Trial name
- NCT01733615
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
General Anesthesia, Inhalation; Gas
End Tidal Anesthetic Concentration in Different Anesthesia Techniques Where Depth of Anesthesia Adjusted With Entropy
The aim of this study is to adjust the end tidal inhalation anesthetic concentration by observing the entropy value in patients who will be provided anesthesia maintenance with volatile anesthetics after applying the routine…
- Trial name
- NCT04203290
- Testing
- Bupivacaine, Sevoflurane
- Where
- Turkey (Türkiye)
- Volunteers
- 44 people
- Sponsor
- Istanbul University
Achondroplasia
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
This is a Phase 2, multicenter, open-label, extension (OLE) study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR 1-3-selective tyrosine kinase inhibitor, in participants with ACH who…
- Trial name
- NCT05145010
- Testing
- Infigratinib
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 325 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Enchondromatosis
Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing
Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood.
- Trial name
- NCT06749366
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Idiopathic Short Stature
Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
This trial aims to evaluate the prevalence of idiopathic short stature among children whose growth is above -2,5SD (AFPA- CRESS/Inserm -CompuGroup Medical 2018 curve) or above -2SD of the parental target size (taking child gender…
- Trial name
- PAG PETI (NCT05858606)
- Testing
- Evaluation of the prevalence of truly (authentified) idiopathic short stature after multidisciplinary clinico-radiological evaluation, analysis in a multidisciplinary consultation meeting via a secure platform (ShareConfrère) for evaluation by multidisciplinary team, Whole genome analysis for authentified idiopathic short stature
- Where
- France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Montpellier
Achondroplasia
Study of Infigratinib in Children With Achondroplasia
This is a Phase 2, multicenter, open-label, dose-escalation and dose-expansion study to evaluate the safety, tolerability, and efficacy of infigratinib, a fibroblast growth factor receptor (FGFR) 1-3-selective tyrosine kinase…
- Trial name
- NCT04265651
- Testing
- Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 84 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Skeletal Dysplasia
Extreme Morphology and Metabolic Health
Researchers at the University of Bath are investigating the metabolism of individuals with extreme body size, including those with skeletal dysplasia (commonly known as dwarfism), to manage health risks such as heart disease.
- Trial name
- NCT05991609
- Where
- United Kingdom
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- University of Bath
Normal Middle Ears., Otitis Media Ears.
Observation of Gas Exchange in the Middle Ear
Observation of fluid behavior over a perforated eardrum. A comparison of the behavior of the gas in normal vs. different kinds of otitis media ears.
- Trial name
- NCT00794105
- Where
- Israel
- Sponsor
- Shaare Zedek Medical Center
Mucopolysaccharidosis IVA, Morquio A Syndrome
BMN 110 US Expanded Access Program
The Expanded Access Program (EAP) is an open-label, multicenter program to: 1. Provide patients who have been diagnosed with Mucopolysaccharidosis IVA (MPS IVA) access to BMN 110 until commercial product is available 2.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01858103
- Testing
- BMN 110
- Where
- 25 sites in United States, Puerto Rico
- Sponsor
- BioMarin Pharmaceutical
MPS IVA, MPS VI
Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
This is a Phase I/II, single arm, open label study of vosoritide therapy provided subcutaneously at 15 ug/kg/day for 96 weeks to 6 patients with MPS IVA or VI.
- Trial name
- NCT05845749
- Testing
- Vosoritide Injection [Voxzogo]
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of California, San Francisco
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
Gangliosidoses, GM1 Gangliosidosis
Registry Gangliosidoses
The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses.
- Conditions
- Gangliosidoses, GM1 Gangliosidosis, Morquio B Disease, Sialidosis
- Trial name
- NCT04624789
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Mucopolysaccharidoses, Mucopolysaccharidosis I
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI.
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV
- Trial name
- NCT01675674
- Testing
- Dried blood spot test for MPS
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- National MPS Society
Morquio Disease
Establishment of Human Cellular Disease Models for Morquio Disease
Establishment of human cellular disease models for Morquio disease for an individualized therapy development having the capacity to address both hepatic and neurologic forms of the disease
- Trial name
- IPSMORQUIO (NCT03872713)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Developmental Bone Disease, Dwarfism
Study of Skeletal Disorders and Short Stature
This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time.
- Conditions
- Developmental Bone Disease, Dwarfism, Skeletal Dysplasias
- Trial name
- NCT00001754
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Osteochondrodysplasia
A First-in-human Single and Repeated Dose Escalation Study of SAR442501 in Healthy Adults Subjects
The purpose of the first-in-human (FIH) study is to obtain safety, tolerability, and pharmacokinetic information on SAR442501 in a healthy adult volunteer population using an integrated single ascending dose (SAD)-multiple…
- Trial name
- NCT05846009
- Testing
- SAR442501
- Where
- United States
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Sanofi
Genetic Skeletal Diseases, Skeletal Dysplasia
Decoding the Genetic Landscape of Skeletal Diseases
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize…
- Conditions
- Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes, Skeletal Disorder
- Trial name
- SKDLAND (NCT05876416)
- Where
- Sweden
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
Cesarean Section Complications
The Effect of Paula Method Exercises on Post-cesarean Section Distension
Aim:To examine the effect of "Paula Method Exercises" after cesarean section on the prevention of postoperative distention and pain due to distension.
- Trial name
- NCT05283707
- Testing
- Paula Method Exercises
- Where
- Turkey (Türkiye)
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Akdeniz University