Beyond Achondroplasia

Growing together with Clara

April 11, 2016
by inesp.alves
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ReACH Achondroplasia Registry

ReACH is a project created for achondroplasia by Prof. Krejci research team. “Prof. Krejci is doing research related to FGFR3 for more than 15 years, focusing in dissecting the mechanisms of fibroblast growth factor (FGF) signaling. His research team works … Continue reading

March 20, 2016
by inesp.alves
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Hearing disturbance in achondroplasia

“Achondroplasia has a variety of head and neck manifestations. The otolaryngologic complications include respiratory manifestations as a result of upper airway obstruction and frequent otitis media which may be accompanied by hearing loss and delayed speech”. Bilateral Ossiculoplasty in 1 Case … Continue reading

October 19, 2015
by inesp.alves
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New cohort revealed for phase 2 of BMN-111

The clinical trial: “A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia (ACH)” will have a new cohort of up to 60mg/kg. This information was obtain in the clinicaltrial.gov page. Cohort 4 has recently begun … Continue reading

September 21, 2015
by inesp.alves
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Lying to sitting to standing up in achondroplasia

Children with achondroplasia usually have strategies to pass by different phases of gross motor skills acquisition. In the article “Development in children with achondroplasia: a prospective clinical cohort study” Ireland, P. J., Donaghey, S., McGill, J., Zankl, A., Ware, R. S., … Continue reading

June 10, 2015
by inesp.alves
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Increased bone turnover and possible accelerated fracture healing in a murine model with an increased circulating C-type natriuretic peptide – Nakao 2015

Bone turnover – total volume of bone that is resorbed and formed over a period of time, usually expressed as percent/year. It can be estimated by measuring relevant bone biomarkers [1]. Bone remodelling – It’s a dynamic physiological event and … Continue reading

May 2, 2015
by inesp.alves
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Orthodontics and dental management in achondroplasia

Dental management in achondroplasia is a subject that I consider quite relevant, although few things have been published about this theme. Orthodontics and dentofacial orthopedics can cause speech and respiratory alterations and pathology. While “general” dentists can provide orthodontic treatment along with … Continue reading

March 10, 2015
by inesp.alves
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Elbow deformities in achondroplasia

Clara has a reduced elbow extension and I started doing research about the elbow´s anatomy in achondroplasia and if there could be any physiotherapy approach to improve the elbow extension. Until the moment, I haven´t found any. I found this guideline: Achondroplasia (0 to … Continue reading

January 20, 2015
by inesp.alves
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BMN-111 clinical trial update

Recently, I had valid information that BioMarin announced that the measurement study is now open for recruitment again for the multicenter study. However, BioMarin didn´t change the age requirement, so children still need to be 4.5 years or older. The person … Continue reading

December 31, 2014
by inesp.alves
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Compassionate use policy for orphan drugs

“Compassionate use is a treatment option that allows the use of an unauthorised medicine. Compassionate use programmes are for patients who have a disease with no satisfactory authorised therapies or cannot enter a clinical trial. They are intended to facilitate … Continue reading

November 18, 2014
by inesp.alves
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Understanding clinical trials

This is a quite delicate subject once I´ve realized that many people, specially parents, see clinical trials as a way to convert their children or themselves into guinea pigs. Well, the goal of a clinical trial is to improve health … Continue reading

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