Paul Harmatz
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View article: Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial Open
The OLE of the NPC-002 trial provides evidence for a sustained reduction in disease progression for at least 5 years in a heterogeneous population of NPC patients receiving arimoclomol in addition to routine clinical care, with no new safe…
View article: Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey Open
Background Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. The current standard of care for MPS II is intravenous enzyme replacement therapy (ERT), wh…
View article: Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey Open
Background Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. The current standard of care for MPS II is intravenous enzyme replacement therapy (ERT), wh…
View article: Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale Open
The R4DNPCCSS is a valid and reliable measure of disease progression demonstrating consistent outcomes with the prespecified 5DNPCCSS endpoint. Arimoclomol significantly slowed disease progression through 12 months as measured by the R4DNP…
View article: Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up
Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up Open
Data collected in the CSP over 15 years provide real-world evidence for sustained improvements in endurance and pulmonary function among patients with MPS VI treated with ERT, with no new safety concerns identified. These results further s…
View article: Prognostic relevance of variant allelic frequency for treatment outcomes in patients with acute myeloid leukemia: a study by the Spanish PETHEMA registry
Prognostic relevance of variant allelic frequency for treatment outcomes in patients with acute myeloid leukemia: a study by the Spanish PETHEMA registry Open
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View article: Switch Antibiotic Therapy from Injectable to Oral to Optimise the Duration of Inpatient Care for Young Infants Presenting with Moderate-Mortality Risk Signs of Possible Serious Bacterial Infection: An Open-Label, Multicountry, Randomised Controlled Trial
Switch Antibiotic Therapy from Injectable to Oral to Optimise the Duration of Inpatient Care for Young Infants Presenting with Moderate-Mortality Risk Signs of Possible Serious Bacterial Infection: An Open-Label, Multicountry, Randomised Controlled Trial Open
View article: P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study
P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study Open
View article: O13: Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study
O13: Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study Open
View article: P833: Persistent clenched hands with or without adducted thumbs: A fetal ultrasound finding in neuronopathic Gaucher disease
P833: Persistent clenched hands with or without adducted thumbs: A fetal ultrasound finding in neuronopathic Gaucher disease Open
View article: Different Clinical Antibiotic Regimens Drive Microbiota Alterations and Emergence of Fungi: A Multinational Prospective Cohort Study
Different Clinical Antibiotic Regimens Drive Microbiota Alterations and Emergence of Fungi: A Multinational Prospective Cohort Study Open
View article: 8669 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
8669 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study Open
Disclosure: S.W. Ing: Research Investigator; Self; BridgeBio Pharma. P. Harmatz: Research Investigator; Self; BridgeBio Pharma. S. Mora: Research Investigator; Self; BridgeBio Pharma. E.A. Imel: Research Investigator; Self; BridgeBio Pharm…
View article: 9295 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
9295 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study Open
Disclosure: S.W. Ing: Advisory Board Member; Self; Ultragenyx, Amolyt. Grant Recipient; Self; Alexion Pharmaceuticals, Inc.. Research Investigator; Self; BridgeBio Pharma, Takeda, Amolyt, Radius Health, Inc, Ultragenyx. P. Harmatz: Researc…
View article: Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life Open
These data suggest that after 3 years of treatment, vosoritide demonstrates a positive effect on physical and social functioning among children with achondroplasia, particularly in children with a more pronounced change in height z-score.
View article: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ <scp>IT</scp> on cognitive function in siblings with neuronopathic mucopolysaccharidosis <scp>II</scp>
Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ <span>IT</span> on cognitive function in siblings with neuronopathic mucopolysaccharidosis <span>II</span> Open
Mucopolysaccharidosis II (MPS II; Hunter syndrome; OMIM 309900) is a rare, X‐linked, heterogeneous lysosomal storage disease. Approximately two‐thirds of patients develop cognitive impairment, which is difficult to assess in clinical trial…
View article: α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial Open
View article: P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*
P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life* Open
Vosoritide, a potent stimulator of endochondral bone growth, is approved for use in children with achondroplasia (ACH) until closure of epiphyses. A 52-week, phase 3, pivotal trial (111-301) demonstrated a significant improvement in annual…
View article: P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide*
P144: Persistence of growth-promoting effects in children with achondroplasia up to 7 years: Update from phase 2 extension study with vosoritide* Open
Vosoritide is approved for use in children with achondroplasia (ACH) on the basis of a pivotal phase 3 study which demonstrated significant improvements in annualized growth velocity (AGV) vs placebo. Long-term data are being collected in …
View article: Safety of Anesthesia in Mucopolysaccharidoses - a Comparative Retrospective Cohort Study on More than 600 Cases
Safety of Anesthesia in Mucopolysaccharidoses - a Comparative Retrospective Cohort Study on More than 600 Cases Open
View article: P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation
P037: Design of a multi-center randomized phase 3 clinical trial (HURCULES) evaluating OTL-203 in MPS-IH vs allogeneic hematopoietic stem cell transplantation Open
Mucopolysaccharidosis type I Hurler (MPS-IH) is an autosomal recessive lysosomal storage disorder characterized by deficiency of alpha-L-iduronidase (IDUA), which is responsible for the degradation of glycosaminoglycans (GAGs). The accumul…
View article: Sustained Growth-Promoting Effects of Vosoritide in Children with Achondroplasia from an Ongoing Phase 3 Extension Study
Sustained Growth-Promoting Effects of Vosoritide in Children with Achondroplasia from an Ongoing Phase 3 Extension Study Open
View article: P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*
P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study* Open
Vosoritide, a potent stimulator of endochondral bone growth, is approved for use in children with achondroplasia (ACH) until closure of epiphyses. A 52-week, phase 3, pivotal trial demonstrated a significant improvement in annualized growt…
View article: P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*
P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide* Open
Vosoritide, a potent stimulator of endochondral bone growth, is approved for use in children with achondroplasia (ACH) until closure of epiphyses. We recently reported results from a phase 2, randomized, double-blind, placebo-controlled st…
View article: Inpatient Versus Outpatient Management of Young Infants with a Single Low Mortality Risk Sign of Possible Serious Bacterial Infection in Sub-Sahara Africa and South Asia: An Open-Label Randomised Controlled Trial
Inpatient Versus Outpatient Management of Young Infants with a Single Low Mortality Risk Sign of Possible Serious Bacterial Infection in Sub-Sahara Africa and South Asia: An Open-Label Randomised Controlled Trial Open
View article: Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)
Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT) Open
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sul…
View article: Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study Open
Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic d…
View article: Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects Open
Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacemen…
View article: OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study
OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study Open
Disclosure: R. Savarirayan: Advisory Board Member; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Sanofi. Consulting Fee; Self; BioMarin. Grant Recipient; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Theracon. Research Investigat…
View article: THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials
THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials Open
Disclosure: R. Savarirayan: Advisory Board Member; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Sanofi. Consulting Fee; Self; BioMarin. Grant Recipient; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Therachon. Research Investiga…
View article: THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib
THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib Open
Disclosure: R. Savarirayan: Advisory Board Member; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Sanofi, Sanofi. Consulting Fee; Self; BioMarin. Grant Recipient; Self; Ascendis Pharma, BioMarin, QED Therapeutics, Therachon. Research I…