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Last update 08 May 2025

Hypophosphatasia, Childhood

Last update 08 May 2025

Basic Info

Synonyms

Childhood hypophosphatasia, Childhood hypophosphatasia (disorder), Childhood-onset Rathbun disease

+ [8]

Introduction

A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.

Drugs associated with Hypophosphatasia, Childhood

Asfotase alpha

Target

ALP

Mechanism

ALP modulators

Active Org.

Astrazeneca Korea Ltd. [+3]

Originator Org.

Alexion Pharmaceuticals, Inc.

Active Indication

Hypophosphatasia, Infantile [+1]

Inactive Indication

Hypophosphatasia, Childhood [+1]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

Japan

First Approval Date03 Jul 2015

Clinical Trials associated with Hypophosphatasia, Childhood

NCT04189315

/ WithdrawnPhase 4

A Phase 4, Randomized, Multicenter, Open-Label, 2-Dosage Regimen, Safety and Tolerability, Efficacy, Pharmacokinetic, and Pharmacodynamic Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia

The study will evaluate safety, tolerability, efficacy, pharmacokinetics, and pharmacodynamics of 2 different doses (approved dose and lower dose) of asfotase alfa in adult participants with pediatric-onset hypophosphatasia (HPP).

Start Date01 Apr 2020

Sponsor / Collaborator

Alexion Pharmaceuticals, Inc.

NCT04195763

/ CompletedNot Applicable

A Prospective Study to Evaluate the Patient Reported Quality of Life Prior to and After Strensiq® Treatment in Adults With Pediatric Onset Hypophosphatasia

This observational study will evaluate the treatment effect of Strensiq (asfotase alfa) on Patient Reported Outcomes (PROs) in participants diagnosed with pediatric-onset hypophosphatasia (HPP) registered in the patient support program managed by OneSource™.

Start Date06 Nov 2019

Sponsor / Collaborator

Alexion Pharmaceuticals, Inc.

[+1]

NCT03418389

/ CompletedNot ApplicableIIT

An Observational, Longitudinal Study to Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia

Hypophosphatasia is a rare inherited metabolic disorder due to inactivating mutations of the ALPL-Gene. Particularly among adult patients, clinical manifestation exhibits a broad range of signs and symptoms, most commonly associated with musculoskeletal disabilities and compromised quality of life. Enzyme replacement therapy with Asfotase alfa (AA) is available and approved for patients with pediatric onset of the disease.
This single-center observational cohort study aims at collecting clinical routine data regarding the course treatment, quality of life and physical performance in patients treated with Asfotase alfa in line with the label for pediatric-onset hypophosphatasia.

Start Date05 Sep 2018

Sponsor / Collaborator

Universitätsklinikum Würzburg

[+1]

100 Clinical Results associated with Hypophosphatasia, Childhood

100 Translational Medicine associated with Hypophosphatasia, Childhood

0 Patents (Medical) associated with Hypophosphatasia, Childhood

149

Literatures (Medical) associated with Hypophosphatasia, Childhood

01 Jan 2025·Journal of VitreoRetinal Diseases

Clinical Presentation and Treatment Outcomes of Adult-Onset Coats Disease

Article

Author: Hansraj, Saarang ; Jalali, Subhadra ; Raval, Vishal ; Sahoo, Niroj ; Das, Anthony Vipin

Purpose: To study the clinical profile, treatment, and outcomes of patients 35 years or older diagnosed with Coats disease. Methods: A cross-sectional observational hospital-based study was performed. Results: The study included 74 eyes diagnosed with adult-onset Coats disease. The mean age at presentation was 50 years (range, 35-75). Most patients were men (72.5%) and had a unilateral presentation (92.8%). The most common stage at presentation was 2A (extrafoveal exudation [39.2%]) followed by 2B (foveal exudation [33.7%]). Optical coherence tomography was performed in 40 eyes; 32 eyes (80.0%) had intraretinal fluid (IRF), 31 eyes (77.5%) had hard exudates, and 22 eyes (55.0%) had a disorganized retinal inner layer. Fluorescein angiography was performed in 35 eyes and showed an irregular foveal avascular zone in 28 eyes (80.0%). Multiple leaking microaneurysms were seen in 32 eyes (91.4%), with extensive vascular abnormalities involving the macula (86%) and extramacular zones (91%). Treatment modalities comprised laser photoablation (43.4%), cryotherapy with or without laser application (5.7%), and intravitreal injections (49%), alone or in combination. At a mean follow-up of 28 months (range, 3-293), 23 eyes (39.6%) had anatomic resolution of subretinal fluid and/or IRF. No statistically significant improvement was found in the mean best-corrected visual acuity (VA) between preoperatively and postoperatively ( P > .05). Conclusions: Patients with adult-onset Coats disease have a unilateral presentation with a less severe stage than patients with childhood-onset disease. Despite the good anatomic response after treatment, the final VA remained unchanged.

01 Dec 2024·The Journal of Pediatrics: Clinical Practice

Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Article

Author: Mackenbach, Maarten ; Lanser, Charlotte ; Scheffers, Linda E ; van den Berg, Linda E ; van den Hout, Johanna M P ; Dulfer, Karolijn ; van der Ploeg, Ans T

ObjectivePompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and fatigue in children with Pompe disease.Study designIn this cross-sectional study, the validated Child Health Questionnaire and PedsQL Multidimensional Fatigue Scale were used to respectively measure (both self-reported and parent-reported) HR-QOL and fatigue in children with Pompe disease.ResultsIn total, of 24 patients with Pompe disease (and their parents) participated, with a median age of 9.6 years [IQR 7.7-11.9], 14 had classic infantile Pompe disease. Self-reported HR-QOL was comparable with the healthy Dutch population on most domains, and patients with the classic infantile type scored mainly lower on physical functioning. Parents of patients with classic infantile Pompe disease reported a significantly lower HR-QOL of their children on 9 domains and parents of patients with (non-classic) childhood-onset Pompe disease on 5 domains. Self-reported fatigue levels in children with classic infantile Pompe disease were increased for 2 of 3 domains compared with healthy peers, and fatigue in patients with non-classic Pompe disease did not differ. Parents of patients with classic infantile Pompe disease reported greater levels of fatigue in all 3 domains compared with healthy children, whereas parents of children with childhood-onset disease scored greater on the cognitive fatigue domain.ConclusionsChildren with Pompe disease report comparable HR-QOL on most domains compared with healthy peers. Contrarily, parent-reported HR-QOL was substantially lower on most domains compared with references values. As expected in relation to disease severity, unfavorable effects on HR-QOL and fatigue were more pronounced in patients with classic infantile Pompe disease.

01 Sep 2024·JBMR Plus

Longitudinal course of circulating miRNAs in a patient with hypophosphatasia and asfotase alfa treatment: a case report

Article

Author: Hackl, Matthias ; Mittelbach, Andreas ; Resch, Heinrich ; Diendorfer, Andreas B ; Zwerina, Jochen ; Hadzimuratovic, Benjamin ; Feurstein, Julia ; Haschka, Judith ; Kocijan, Roland

AbstractHypophosphatasia (HPP) is characterized by low activity of tissue nonspecific alkaline phosphatase (TNSALP). The enzyme replacement therapy asfotase alfa has been approved for childhood-onset forms of HPP. MicroRNAs (miRNAs) have emerged as a novel disease biomarker, with potential application in therapy monitoring. Circulating miRNAs were analyzed at baseline, months 1, 2, 4, and 16 in a 49-yr-old woman with childhood-onset HPP, chronic musculoskeletal pain, and non-traumatic fractures prior to enzyme replacement therapy. Serum RNA was extracted and sequenced using miRNeasy Mini Kit (Qiagen, Germany), RealSeq Biosciences Kit (Santa Cruz, US) together with miND spike-in control kit (TAmiRNA, Austria) and Illumina NovaSeq 6000 SP1 flow cell (San Diego, US). Brief Pain Inventory Severity and Interference scores (BPI-S/BPI-I), fatigue severity scale (FSS), Patient Global Impression of Improvement (PGI-I), Western Ontario and McMaster university hip disability and osteoarthritis outcome score (WOMAC), fibromyalgia impact questionnaire (FIQ), 6-Minute Walking Test (6-MWT), chair-rise-test (CRT), and handgrip dynamometry (HD) were performed at baseline and different timepoints during the therapy. Out of >800 screened, 84 miRNAs were selected based on differences in expression profiles between 24 HPP patients and 24 healthy controls. Six miRNAs showed a clear graphic trend and were up- or downregulated by ≥50% reads per million (rpm). These included hsa-let-7i-5p (+50%), hsa-miR-1-3p (−66.66%), hsa-miR-1294 (+63.63%), hsa-miR-206 (−85.57%), hsa-miR-375-3p (−71.43%), and hsa-miR-624-5p (+69.44%). hsa-miR-1-3p and hsa-miR-206 were identified as muscle-specific miRNAs. hsa-mir-375-3p, which negatively regulates osteogenesis, was significantly downregulated. In terms of patient-reported outcomes, BPI-S, BPI-I, FSS, PGI-I, WOMAC, and FIQ showed a reduction by −58.62%, −68.29%, −33.33%, −75.00%, −63.29%, and −43.02%, respectively. 6-MWT improved by +33.89% and CRT by −44.46%. Mean hand grip strength of the right/left hand measured by HD improved by +12.50% and + 23.53%, respectively. miRNA profile changes during the therapy with asfotase alfa, accompanying improvements in functionality tests and quality of life scores.

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