Skeletal

Posted 3 months ago by Wales Gene Park

Brief Summary This is a long-term, multi-center, longitudinal, observational study in children with achondroplasia (ACH). The aim is to study height velocity and comorbidities in children with ACH. This is a natural history study and no study medication will be administered.

 Achondroplasia /  London

Posted 10 months ago by Wales Gene Park

This research project aims to understand the social factors surrounding the diagnosis of conditions that are related to joint hypermobility. This includes conditions that are rarely diagnosed, including hypermobile Ehlers-Danlos syndrome, and rare diseases such as Marfan's syndrome and osteogenesis imperfecta. It explores how guidance about diagnosing hypermobility is written, who makes decisions about diagnosing hypermobility, how these decisions are made, and how this affects different people.   To understand this in-depth, a variety of research methods are used, including analysis of documents and webpages; observations of disease support groups online and in-person; and interviews with a variety of stakeholders including patients, parents, carers, medical professionals, social care professionals, and other researchers. Research participants also have the opportunity to send the researcher other items that allow them to express themselves and their experiences, such as diaries, photographs, drawings, or poetry.   The research is part of a PhD project in the social...

 Ehlers-Danlos syndrome

Posted 11 months ago by Wales Gene Park

This is a Phase III, multi-centre, randomized, double-blind, placebo-controlled, parallel-group study to evaluate Safety and Efficacy of Tauroursodeoxycholic (TUDCA) as add-on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis (ALS).

 Skeletal /  England

Posted 2 years ago by Wales Gene Park

This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, & treatments Children's information will be collected in the registry for a maximum of 5 years.

 Achondroplasia

Posted 3 years ago by Wales Gene Park

This is a long-term, multi-center, observational study in children 2.5 to 10 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications and treatments of study participants. No study medication will be administered.

 Achondroplasia /  England

Posted 3 years ago by Wales Gene Park

This is a long-term, multi-center, longitudinal, observational study in children with achondroplasia (ACH). The aim is to study height velocity and comorbidities in children with ACH. This is a natural history study and no study medication will be administered.

 Achondroplasia

Posted 3 years ago by Wales Gene Park

To evaluate long-term safety of denosumab in subjects with pediatric osteogenesis imperfecta(OI) completing Study 20130173.

 Osteogenesis imperfecta /  England

Posted 3 years ago by Wales Gene Park

Osteogenesis imperfect (OI) or brittle bone disease is an inherited condition in which the bones of the skeleton break (fracture) more easily than normal, often in response to a minor injury and sometimes for no reason at all. There is no cure for OI and no treatment has been convincingly shown to reduce the risk of breaking bones. Many doctors treat OI patients with drugs called bisphosphonates, such as zoledronic acid, which are also used in osteoporosis (gradual bone loss that leads to weakened bones), but it’s not clear if they are effective at preventing fractures in OI. Teriparatide (TPTD) is a form of parathyroid hormone, which works by activating bone building cells in the body. The aim of this study is to determine if it is possible to reduce the risk of fractures occurring in OI by using a combination of treatments which will strengthen the skeleton as compared...

 Osteogenesis imperfecta

Posted 3 years ago by Wales Gene Park

TOPaZ: Treatment of Osteogenesis Imperfecta with Parathyroid hormone and Zoledronic acid  Osteogenesis imperfecta (OI) is an inherited skeletal disorder characterised by increased risk of fragility fractures. Bisphosphonates are frequently prescribed for adult patients with OI with the aim of preventing fractures but the evidence base for efficacy is poor. Recent evidence suggests that the bone anabolic agent teriparatide (TPTD) increases bone mineral density (BMD) and may have the potential to prevent fractures in OI. The purpose of the TOPaZ Trial is to investigate if a a two-year course of teriparatide (TPTD) followed by antiresorptive therapy with a single infusion of zoledronic acid (ZA) in adults with OI reduces the proportion of patients who experience a fracture as compared with standard care. Adult patients with a clinical diagnosis of OI who are willing and able to give informed consent and who do not have contraindications to the study medications will be...

 Osteogenesis imperfecta /  Llandudno General Hospital


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