Related Experiment Video

Updated: Dec 1, 2025

Using Human Induced Pluripotent Stem Cell-derived Hepatocyte-like Cells for Drug Discovery
12:40

Using Human Induced Pluripotent Stem Cell-derived Hepatocyte-like Cells for Drug Discovery

Published on: May 19, 2018

10.5K

[Clinical experience with orphan drugs for rare metabolic diseases]

Alicia Caso-González1, Jesica Núñez-Rodríguez1, María-José Nebot-Villacampa1

  • 1Servicio de Farmacia, Hospital San Pedro, Logroño, España.

Anales De Pediatria
|November 7, 2020
PubMed
Abstract

Insights

Orphan drugs for inborn errors of metabolism show varied effectiveness and good tolerance in pediatric patients. While some achieve asymptomatic status, others offer modest improvement, with significant economic impact and debated cost-effectiveness.

Area of Science:

  • Metabolic Disorders
  • Pharmacology
  • Pediatric Medicine

Context:

  • Inborn errors of metabolism (IEMs) are rare, heterogeneous orphan diseases.
  • Limited studies exist due to small patient populations.
  • Current treatments include diet, enzyme, and coenzyme replacement.

Purpose:

  • To evaluate the effectiveness of orphan drugs in pediatric patients with inborn errors of metabolism.
  • To describe the outcomes and tolerance of specific orphan drug therapies.

Summary:

  • A retrospective study analyzed 15 pediatric patients with nine different IEMs treated with nine distinct orphan drugs.
  • Outcomes ranged from asymptomatic status to modest symptomatic improvement.
  • Most patients exhibited good tolerance to the prescribed orphan drugs.

Impact:

  • Orphan drugs for IEMs have a manageable toxicity profile but diverse effectiveness.
  • These therapies represent a significant hospital drug cost (1.3%).
  • The cost-effectiveness of orphan drugs remains controversial due to high prices and inconclusive clinical evidence.
Keywords:
Enfermedades mitocondrialesEnfermedades rarasErrores innatos del metabolismoMetabolism, Inborn errorsMitochondrial diseasesOrphan drug productionPaediatricsPediatríaProducción de medicamentos sin interés comercialRare diseases

More Related Videos

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.4K
Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells08:28

Author Spotlight: Advancing Metabolomics Analysis of Rare Hematopoietic Stem Cells

Published on: February 23, 2024

2.3K

Related Concept Videos

Prescription, Nonprescription and Orphan Drugs01:02

Prescription, Nonprescription and Orphan Drugs

Prescription drugs require a prescription from a medical practitioner and can only be obtained from a pharmacy. They have many applications, including treating pain, anxiety, and hypertension.
The misuse and addiction to prescription drugs is a growing problem that can affect people of all age groups, specifically teenagers. This can happen when prescription medications are used in ways not intended by the prescriber, such as taking someone else's prescription or using medication for...
1.0K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
99
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
120
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
130
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
587
Pharmacokinetics in Pediatric Patients: Drug Distribution01:17

Pharmacokinetics in Pediatric Patients: Drug Distribution

Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight,...
146