G232(P) Recombinant human growth hormone- should access grow?

Abstract

Aims NICE currently recommends the use of recombinant human growth hormone (rHGH) to treat growth failure in 6 conditions based on a systematic review by Takeda et al. Growth hormone deficiency, Turner Syndrome, Prader-Willi syndrome, chronic renal insufficiency, SHOX deficiency, and children born small for gestational age with subsequent growth failure at over 4 years old. Unfortunately, there are genetic syndromes in which short stature remains a feature, yet rHGH is not currently licensed. As a result, there are a small number of children who may benefit from rHGH, yet remain unable to access it, with the subsequent theoretical risks of social isolation, educational underachievement and emotional distress associated with short stature. We hope these case reports can stimulate somewhat controversial discussions around the use of rHGH beyond its current mandate. Methods We present case reports from a UK hospital focussing on 2 patients with rare genetic conditions associated with short stature- Trichorhinophalangeal Syndrome and KBG Syndrome, accompanied by a summary of the current literature surrounding rHGH use in each condition. Results There are 10 reported cases of rHGH use in TRPS, summarised below. Taken together, they suggest rHGH can be of benefit, and that earlier initiation of therapy is associated with better height outcomes. More information is needed before TRPS I can be considered a firm indication, but rHGH has potential to improve height outcomes in the short term. Turning attention to KBG syndrome, there are only 2 detailled case reports of GH treatment in this condition (Reynart et al. 2015). These children increased their height by 0.6 and 1 SDS within 1 year of treatment, respectively. Conclusion This work demonstrates the clinical features of 2 rare genetic conditions, and highlights the need for further debate around the potential of rHGH in maximising growth potential, with the ultimate aim of improving quality of life for patients with rare conditions including KBG syndrome and TRPS. References . Takeda A. Recombinant human growth hormone for the treatment of growth disorders in children: A systematic review and economic evaluation. Health Technol Assess2010September;14(42):1–209. . Naselli A. Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology: Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. Pediatr Radiol1998November;28(11):851–5. . Stagi S. Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome. Am J Med Genet A2008June 15;146A(12):1598–604. . Sarafoglou K, Moassesfar S, Miller BS. Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy. Clin Genet2010December;78(6):591–3. . Sohn YB. Clinical, biochemical, and genetic analysis of two Korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. Ann Clin Lab Sci2012Summer;42(3):307–12. . Merjaneh L1. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: A case report and review of the literature. Int J Pediatr Endocrinol2014;2014(1):16. . Riedl S. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. Am J Med Genet Part A 2004;131:200–3. . Reynart N. Short stature in KBG syndrome: First responses to growth hormone treatment. Horm Res Paediatr2015;83(5):361–4. doi:10.1159/000380908 [Epub: 2015 April 1].