Posts Categorized: Treatment



HSCT and genetic conditions

Posted by & filed under Treatment.

Hematopoietic stem cell transplantation (HSCT) with matched unrelated donors can be used in different non-malignant genetic diseases. Abdel-Azim et al. report the outcomes of 15 patients with non-malignant genetic diseases who received HSCT from 2006 to 2014. Fifteen patients were enrolled during the study period: 26.7% female (n = 4), 33.3% Hispanic (n = 5), […]



Gene therapy and Primary hyperoxaluria type 1

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Primary hyperoxaluria type 1 (PH1) is a condition caused by a deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). PH1 is estimated to account for about 1% of pediatric cases of end-stage renal failure and to occur in 1:120,000 live births in Europe. It typically presents with renal colic or asymptomatic gross hematuria before the […]



iINDs and inborn errors of metabolism

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In the recent edition of Molecular Genetics and Metabolism, P. Dickson and J. Tolar discuss the potential of individual investigational new drug applications (iINDs) for N-of-One therapeutic trials of experimental therapies in inborn errors of metabolism (Mol Gen Metab 116 (2015):1-3). They discuss “pros”: faster bench to bedside translation, treating life-threatening conditions with no other therapeutic options, and “cons”: […]



Phase 3 Trial in Lysosomal Acid Lipase Deficiency

Posted by & filed under Part 12: LIPIDS, Treatment.

  Lysosomal  acid lipase deficiency can cause cirrhosis and severe dyslipidemia. Burton et al. recently published in N Engl J Med a multicenter, randomized, double-blind, placebo-controlled study involving 66 patients with lysosomal acid lipase deficiency. This was a phase 3 clinical trial of enzyme-replacement therapy in children and adults, using sebelipase alfa. Sebelipase alfa was administered intravenously (1 […]



SAM in creatine transporter deficiency

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Jaggumantri et al. recently published an open-label observational study to evaluate the effect of adjunct S-adenosyl methionine (SAM) in Creatine transporter (SLC6A8) deficiency. This X-linked condition is characterized by cerebral creatine deficiency, behavioral problems, seizures, hypotonia, and intellectual disability. Only some patients respond to high-dose oral creatine, glycine, and L-arginine supplementation. SAM (50/mg/kg) was used […]



CRISPR tool (treatment & mutations assessment)

Posted by & filed under Tools, Treatment.

CRISPR-Cas9-based genome editing enables the rapid genetic manipulation of any genomic locus without the need for gene targeting by homologous recombination. It can be used in the search for new treatment modalities, e.g. studies focusing on the identification of physiological targets of drugs and bioactive small molecules (Zhu et al. 2015; Kasap et al 2014). One of the […]



Combined cysteamine bitartrate and N-acetylcysteine for NCL

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Treatment.

Levin et al (2014) recently reported on a study exploring the impact of combined oral cysteamine bitartrate (60 mg/kg per day) and N-acetylcysteine (60 mg/kg per day) in patients with neuronal ceroid lipofuscinosis (n=10, age range: 6 months to 3 years old). Assessments took place every 6-12 months until the patients had an isoelectric EEG […]



Antisense therapy in Galactosemia

Posted by & filed under Part 07: CARBOHYDRATES, Treatment.

Mutational analysis of patients with galactosemia Portugal revealed the intronic variation c.820+13A>G as the second most prevalent mutation. Coelho et al. functionally characterized this intronic variation and studied its pathogenic mechanism. Minigene splicing assays in two distinct cell lines and patients’ transcript analyses showed that the mutation activates a cryptic donor splice site, inducing an […]



Tyrosinemia & NTBC: 168 patients

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Mayorandan et al. performed a cross-sectional study on Hepatorenal tyrosinaemia. Questionnaires were used to collect retrospective data about 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel). The results of this study highlight the importance of NTBC accompanied by natural protein restriction (supplemented with essential amino acids) in the prevention of complications […]



Liver transplantation in CDG

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Treatment.

Janssen et al. recently reported the first successful liver transplantation in a Congenital Disorders of Glycosylation (CDG), and specifically in  phosphomannose isomerase deficiency (MPI-CDG). MPI-CDG has been considered a treatable disorder usually presenting with hepato-intestinal pathology. Treatment with mannose can improve the life-threatening protein-losing enteropathy and coagulation disorder but patients ultimately develop progressive liver insufficiency. […]