Clinical trials: Mucopolysaccharidosis IV A, open to volunteers
MPS I, MPS IV A
Cardiac Structure and Function in MPS
The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS).
- Conditions
- MPS I, MPS IV A, MPS - Mucopolysaccharidosis, MPS IVA
- Trial name
- NCT07361536
- Where
- 3 sites in United States
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Orange County
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
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)
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
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
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)
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
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
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
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
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
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 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
Mucopolysaccharidosis I, Mucopolysaccharidosis II
MPS (RaDiCo Cohort) (RaDiCo-MPS)
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV
- Trial name
- NCT06036693
- Where
- 23 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
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
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 subjects with ACH who previously…
- Trial name
- NCT05145010
- Testing
- Infigratinib
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 300 people
- Sponsor
- QED Therapeutics, a BridgeBio company
SEDC, Hypochondrogenesis
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well…
- Conditions
- SEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest Dysplasia
- Trial name
- ROCKET (NCT05408715)
- Testing
- Natural History Study
- Where
- 2 sites in France, Spain
- Volunteers
- 60 people
- Sponsor
- Innoskel
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