Clinical trials: Morquio Syndrome
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
Awareness, Anesthesia, Recall Phenomenon
Awareness in Old Aged Patients During Laryngoscopy and Intubation Using Isolated Forearm Technique
Awareness during general anesthesia - that has an incidence between 0.1% and 0.9% of cases and may be more in elderly - remains a concern for anesthesiologists.
- Conditions
- Awareness, Anesthesia, Recall Phenomenon, Inhalation; Gas
- Trial name
- NCT05019560
- Testing
- Sevoflurane, TIVA
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Ain Shams University
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
Skeletal Dysplasia
Identification and Characterization of Bone-related Genetic Variants in Families
Identify novel genetic variants causing skeletal dysplasia in Qatari populations and to additionally develop an understanding of how those variants influence skeletal biology at a molecular and cellular level.
- Trial name
- NCT02762318
- Testing
- Samples With DNA
- Where
- Qatar
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Gastrointestinal Symptoms, Bloating
Probiotic Supplementation Among Adults With Recurrent Gastrointestinal Symptoms
Participants experiencing recurrent gastrointestinal symptoms in this double-blind, randomized, controlled trial will receive either a commercially-available probiotic dietary supplement or placebo.
- Conditions
- Gastrointestinal Symptoms, Bloating, Gas, Indigestion
- Trial name
- NCT02277431
- Testing
- Probiotic dietary supplement (Trenev Trio®)
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Mucopolysaccharidosis IVA (Morquio A Syndrome)
BMN 110 Phase 3B in Australian Patients
There is currently no treatment for MPS IVA other than supportive care for the clinical manifestations of the disease. Enzyme replacement therapy (ERT) with BMN 110 to replace the deficient GALNS is a potential new treatment…
- Trial name
- MOR-AUS (NCT01966029)
- Testing
- BMN 110
- Where
- 5 sites in Australia
- Volunteers
- 13 people
- Sponsor
- BioMarin Pharmaceutical
Skeletal Dysplasia
Data Collection of Patients With Rare Bone Diseases
RD-DATA is a retrospective and prospective data collection, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data…
- Trial name
- RD-DATA (NCT05247645)
- Where
- Italy
- Volunteers
- 1,000 people
- Sponsor
- Luca Sangiorgi
Mucopolysaccharidosis IVA, Morquio A Syndrome
Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation
The primary objective of this study is to evaluate the effect of 2.0 mg/kg/week BMN 110 in a patient population that has limited ambulation, in a period of up to 144 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01697319
- Testing
- BMN 110
- Where
- 7 sites in United States, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- BioMarin Pharmaceutical
Gastric Bypass, Blind Loop Syndrome
Small Intestinal Bacterial Overgrowth Obese
The objective of this research is to determine the incidence of microbial overgrowth of the small intestine before and after a gastric bypass.
- Conditions
- Gastric Bypass, Blind Loop Syndrome, Bacterial Overgrowth Syndrome, Chromatography, Gas
- Trial name
- SIBOB (NCT02819037)
- Testing
- gas chromatography, Stool analysis for detection of malabsorption
- Where
- 2 sites in France
- Volunteers
- 51 people
- Sponsor
- Lille Catholic University
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Longitudinal Studies of Brain Structure and Function in MPS Disorders
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV
- Trial name
- NCT01870375
- Where
- 4 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- 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
Inhalation; Gas
Sevoflurane Wash in Method Using Conventional Flows Versus Low Flows of 0.5L
The goal of this observational study is to to evaluate a technique of initiating Sevoflurane low-flow anesthesia which is simple, has a quick wash-in and minimises gas consumption without compromising the safety when compared to…
- Trial name
- NCT06209112
- Testing
- Sevoflurane
- Where
- Oman
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Royal Hospital, Oman
Achondroplasia
A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
Approximately 63 participants will be randomized to one of three doses to receive Recifercept either Low Dose Medium Dose High Dose Participants will will attend the clinic at baseline and at Day 1, 4, 8, 15, 29 \& then Month 2…
- Trial name
- NCT04638153
- Testing
- Recifercept
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 60 people
- Sponsor
- Pfizer
Skeletal Disorders
Study of Skeletal Disorders
Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
- Trial name
- NCT05031507
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Irritable Bowel Syndrome, Digestive System Diseases
Efficacy of a Multi-strain Probiotic in the Treatment of Irritable Bowel Syndrome
The Canadian College of Naturopathic Medicine is conducting a research study on Irritable Bowel Syndrome (IBS), a common condition in North America.
- Conditions
- Irritable Bowel Syndrome, Digestive System Diseases, Colonic Diseases, Functional, Colitis, Mucous
- Trial name
- IBS (NCT01887834)
- Testing
- Kyodophilus multi-strain probiotic capsules
- Where
- Canada
- Volunteers
- 100 people
- Sponsor
- The Canadian College of Naturopathic Medicine
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
Morquio's Disease
Morquio's Syndrome: a Case Study
OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome.
- Trial name
- NCT00609440
- Testing
- physiotherapeutic treatment
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Clínica de Hidroterapia e Recuperacao Funcional
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
Vascular Access
Radial ABG Sampling: A RCT of Lidocaine Local Anaesthesia
Arterial Blood Gas (ABG) sampling is a common procedure in all hospitals worldwide. Often, ABG samples are obtain from inserting a needle into the radial artery at the wrist - this procedure is often painful and dreaded by…
- Trial name
- NCT02125565
- Testing
- Injected subcutaneous local (lidocaine) anaesthesia
- Where
- United Kingdom
- Volunteers
- 43 people
- Sponsor
- Mr Ryckie George Wade