Related Experiment Video

Updated: Jan 26, 2026

Image Acquisition using Portable Sonography for Emergency Airway Management
07:31

Image Acquisition using Portable Sonography for Emergency Airway Management

Published on: September 28, 2022

3.0K

Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases

Oliver Semler1,2, Mirko Rehberg3, Nava Mehdiani3

  • 1Centre for Rare Skeletal Diseases in childhood, Children's Hospital, University of Cologne, Kerpenerstr. 62, 50937, Cologne, Germany. joerg.semler@uk-koeln.de.

Paediatric Drugs
|April 4, 2019
PubMed

Insights

New treatments for rare skeletal diseases are emerging, targeting specific genetic causes. Specialized centers and increased awareness are crucial for advancing therapies and improving patient care.

Area of Science:

  • Medical Genetics
  • Rare Diseases
  • Skeletal Disorders

Background:

  • Recent advances in understanding rare diseases have spurred the development of novel therapeutic strategies.
  • Elucidation of genetic alterations and pathophysiology has enabled targeted treatments for conditions like osteogenesis imperfecta and achondroplasia.

Purpose of the Study:

  • To review current and emerging therapeutic approaches for rare skeletal disorders.
  • To emphasize the importance of specialized centers and multidisciplinary care for these conditions.
  • To highlight the role of increased awareness in advancing treatment options.

Main Methods:

  • Review of recent literature on rare skeletal disease treatments.
  • Analysis of approved and investigational drugs targeting disease-specific pathways.
  • Discussion of the impact of specialized care centers and multidisciplinary approaches.

Main Results:

  • Several targeted therapies have been developed, with some approved (e.g., asfotase alfa, burosumab) and others in clinical trials (e.g., denosumab, vosoritide).
  • Multi-disciplinary treatment in specialized centers is recommended for safety and data collection to refine strategies.
  • Increased awareness in pediatrics, prenatal, and obstetric fields can drive further therapeutic innovation.

Conclusions:

  • Targeted therapies represent a significant advancement in managing rare skeletal diseases.
  • Specialized centers and multidisciplinary care are essential for optimal patient outcomes and research.
  • Enhanced awareness and ongoing research are vital for discovering new treatment options and informing family decisions.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Tissue Triage and Freezing for Models of Skeletal Muscle Disease05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

41.2K

Related Concept Videos

Skeletal Muscle Relaxants: Therapeutic Uses01:31

Skeletal Muscle Relaxants: Therapeutic Uses

Skeletal muscle relaxants are used to relax muscle tone and alleviate painful muscle contractions. However, the choice of skeletal muscle relaxants depends on the duration of the surgical procedure in order to minimize potential side effects. Skeletal muscle relaxants like neuromuscular blocking agents [NMBAs] are commonly employed as adjuvants alongside general anesthetics in clinical settings. NMBAs are also used to maintain controlled ventilation during surgery of the larynx or pharynx...
942
Applications of GIS: Disaster Management and Emergency Response01:29

Applications of GIS: Disaster Management and Emergency Response

Geographic Information System (GIS) technology is essential for risk identification, action prioritization, and resource optimization in critical situations like flooding and earthquakes. By integrating spatial and demographic data, GIS provides a comprehensive framework for emergency response.GIS integrates data layers, like rainfall intensity, topography, elevation profiles, and river levels, to model high-risk flood zones. These layers assess areas susceptible to flooding based on their...
495
Emerging Adulthood01:27

Emerging Adulthood

Jeffrey Arnett's concept of emerging adulthood offers a framework to understand the unique developmental stage between adolescence and full-fledged adulthood, generally from ages 18 to 25. This period is marked by extensive exploration and shifts in identity, relationships, and career choices, a process known in psychology as role experimentation. Emerging adulthood reflects the evolving cultural expectations surrounding adulthood and the dynamic process of personal transformation during...
656
Inflammatory Bowel Disease V: Surgical Management01:21

Inflammatory Bowel Disease V: Surgical Management

Surgical interventions for inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, are essential in managing symptoms and addressing complications. The selection of surgical procedures is contingent upon the specific conditions and complications that stem from these illnesses.
Here are some common surgical interventions for IBD:
485
Chronic Obstructive Pulmonary Disease-V: Management01:29

Chronic Obstructive Pulmonary Disease-V: Management

Managing Chronic Obstructive Pulmonary Disease (COPD) involves a multifaceted approach to reduce symptoms, prevent exacerbations, improve overall health status, and slow disease progression. Key strategies include lifestyle modifications, pharmacotherapy, supportive therapies, and, in some cases, surgery. Here is an overview of the primary COPD management strategies:
Smoking Cessation
3.1K
Peptic Ulcer Disease IV: Management01:26

Peptic Ulcer Disease IV: Management

Medical treatment strategies for peptic ulcers encompass various methods. The primary goal of treatment is to diminish gastric acidity and strengthen mucosal defense mechanisms.
The therapeutic approach involves ensuring adequate rest, implementing drug therapy, promoting smoking cessation, making dietary modifications, and emphasizing long-term follow-up care.
Pharmacological management
The prevailing therapy for peptic ulcers involves a combination of managing the patient's current...
465