Clinical trials: Mucopolysaccharidosis IV
Gut Health
A Study to Evaluate the Effects of a Butyrate-Polyphenol Formulation on Gut Health and Associated Symptoms
The purpose of the study is to evaluate the efficacy of a butyrate/polyphenol formulation on modulation of the gut microbiome and gastrointestinal symptoms using questionnaires in individuals with self-reported gastrointestinal…
- Trial name
- NCT07371975
- Testing
- Butyrate + Polyphenol Formulation
- Where
- United States
- Volunteers
- 124 people, healthy volunteers welcome
- Sponsor
- Supplement Formulators, Inc.
Mucopolysaccharidosis IV A
Natural History of Atypical Morquio A Disease
Mucopolysaccharidosis IVA (MPS IVA) (or Morquio A disease) is a rare recessive autosomal lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in accumulation of the…
- Trial name
- NCT03204370
- Testing
- Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
- Where
- France
- Volunteers
- 7 people
- Sponsor
- GOIZET
Elective Colonoscopy
Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep®
The purpose of this dose finding/comparative efficacy study is to first single out the most appropriate dose of mannitol for bowel preparation (phase II) and, subsequently, demonstrate the non-inferiority of the efficacy of…
- Trial name
- SATISFACTION (NCT04759885)
- Testing
- Phase II: NTC015 low dose, Phase II: NTC015 medium dose, Phase II: NTC015 high dose
- Where
- 35 sites in France, Germany and 2 more
- Volunteers
- 886 people
- Sponsor
- NTC srl
Mucopolysaccharidosis IV A, Morquio A Syndrome
Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
This Phase 3 extension study will evaluate the long-term efficacy and safety of BMN 110 2.0 mg/kg/week and/or BMN 110 2.0 mg/kg/every other week in patients with mucopolysaccharidosis IVA (Morquio A Syndrome).
- Conditions
- Mucopolysaccharidosis IV A, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01415427
- Testing
- BMN 110 - Weekly, BMN 110 - Every Other Week
- Where
- 43 sites in United States, Argentina and 18 more
- Volunteers
- 173 people
- Sponsor
- BioMarin Pharmaceutical
MPS I, MPS IV
Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis
Hardly any imaging studies specifically addressing the articular and periarticular structures in MPS patients are available at this point.
- Trial name
- NCT02067650
- Where
- Canada
- Volunteers
- 18 people
- Sponsor
- Children's Hospital of Eastern Ontario
Morquio B Disease, GM1 Gangliosidosis Type III
Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis
Mucopolysaccharidosis type IVB (Morquio-B disease, MBD) is an autosomal-recessive lysosomal disease caused by mutations in a gene called GLB1.
- Trial name
- NCT04320329
- Where
- Canada
- Volunteers
- 30 people
- Sponsor
- University of British Columbia
Morquio Disease, MPS - Mucopolysaccharidosis
Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?
The present study seeks to interview women with Morquio A and Morquio B syndrome, to explore their concerns surrounding pregnancy and the impact of ERT on their perspectives, in comparison with the control group of Morquio B…
- Trial name
- MorqPreg (NCT03150069)
- Testing
- Interview
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Emory University
Irritable Bowel Syndrome
Effect of Chronic Feeding of Inulin And Methylcellulose on Colonic Fermentation
To determine the effect on tolerance and gas production from chronic feeding of fermentable fibre (inulin) incorporated into a gel forming fibre (methylcellulose) compared with placebo (maltodextrin)
- Trial name
- CINNAMON (NCT06551961)
- Testing
- methylcellulose, inulin, maltodextrin
- Where
- 2 sites in United Kingdom
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Achondroplasia
Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia
All participants who completed the prior study to assess long-term safety, tolerability, pharmacokinetics and efficacy, and in the opinion of the investigator, continue to have a positive risk:benefit profile, will be offered to…
- Trial name
- NCT05116046
- Testing
- Recifercept
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 35 people
- Sponsor
- Pfizer
Gastrointestinal, Colic
Safety and Effect of L. Reuteri on Biomarkers of Inflammation in Healthy Infants With Colic
This protocol is a study of the effects of Lactobacillus reuteri in 45 healthy infants with colic. The study is being conducted in order to prove treatment dose with probiotic (Lactobacillus reuteri) in a clinical setting is safe…
- Trial name
- NCT01849991
- Testing
- Lactobacillus reuteri
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
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
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
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
Gas, Bloating
Assessment and Validation of Electronic Gas and Bloating Diary
The investigator's goal is to improve the patient's compliance and accurate capture of patient reported gas and bloating symptoms, by utilizing a phone application that interactively records each gas and bloating event in…
- Conditions
- Gas, Bloating, Distension, Constipation
- Trial name
- NCT04684849
- Testing
- APP Diary, Paper Diary
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Augusta University
Irritable Bowel
Effect of Rate Of Delivery on Colonic Fermentation of inuliN (EON)
To test whether slowing the rate of delivery of inulin with either psyllium or divided dosing of inulin, will reduce colonic gas production as compared to inulin combined with placebo.
- Trial name
- EON (NCT05619341)
- Testing
- psyllium, inulin
- Where
- United Kingdom
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
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
Mucopolysaccharidosis IV Type A, Morquio A Syndrome
A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)
The objectives of this program are: to characterize and describe the Mucopolysaccharidosis IV type A (MPS IVA) population as a whole, including the heterogeneity, progression, and natural history of MPS IVA; to evaluate the…
- Conditions
- Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA
- Trial name
- MARS (NCT02294877)
- Testing
- Vimizim® (elosulfase alfa)
- Where
- 79 sites in United States, Australia and 15 more
- Volunteers
- 418 people
- Sponsor
- BioMarin Pharmaceutical
Functional Gastrointestinal Disorders
Effect of Controlled Diet Combined With a Fermented Milk Product on Gas-related Symptoms
To select among different dietary and clinical conditions the most appropriate to assess the impact of a fermented milk product on gas-related symptoms
- Trial name
- FLATBACK (NCT02936713)
- Testing
- Fermented milk product with probiotics (FMPP)
- Where
- Spain
- Volunteers
- 126 people, healthy volunteers welcome
- Sponsor
- Danone Global Research & Innovation Center
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company
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