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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases

Ataf Sabir1,2, Melita Irving1,3

  • 1Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.

British Medical Bulletin
|August 28, 2021
PubMed
Abstract

Insights

Genetic skeletal dysplasias (GSDs) are common birth defects. Advances in molecular diagnostics are enabling new GSD therapies, with this review exploring current clinical trials and future research opportunities.

Area of Science:

  • Medical Genetics
  • Skeletal Biology
  • Pharmacology

Background:

  • Genetic skeletal dysplasias (GSDs) represent 5% of all birth defects.
  • Historically, targeted treatments for GSDs were limited.
  • Recent molecular diagnostic advancements are driving significant therapeutic progress.

Purpose of the Study:

  • To review current clinical trials for various GSDs.
  • To identify challenges in GSD drug development.
  • To explore future research directions and opportunities in GSD therapeutics.

Main Methods:

  • Systematic literature search of PubMed up to February 2020.
  • Inclusion of original articles, reviews, and meta-analyses.
  • Focus on English-language publications regarding emerging GSD therapies.

Main Results:

  • Discussion of clinical trials for achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia, and fibrous ossificans progressiva.
  • Exploration of challenges including clinician input, cost-effectiveness, and evidence-based practice in GSD drug development.
  • Identification of opportunities from earlier diagnosis, treatment impact, and gene editing challenges.

Conclusions:

  • Molecular diagnostics are revolutionizing GSD treatment options.
  • Addressing challenges in drug development is crucial for therapeutic advancement.
  • Future research should focus on early diagnosis, novel treatments, and gene editing technologies for GSDs.
Keywords:
FOPHPPMCDSOIXLHachondroplasiabonedysostosesgene editinggeneticgenomicsosteopetrosisskeletal dysplasia disorderstrials

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