sapropterin / Generic mfg. 
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 56 Diseases   8 Trials   8 Trials   1230 News 


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  • ||||||||||  Palynziq (pegvaliase-pqpz) / BioMarin
    Journal:  Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients. (Pubmed Central) -  Jan 3, 2025   
    This study highlights the multifactorial influences on PKU management and underscores the importance of social resources, such as clinic social workers and state-provided formula, in modulating the effects of SDOH on PKU control. Further research in different healthcare settings is needed to understand the social determinants affecting PKU patients comprehensively, which will strengthen advocacy efforts for this population.
  • ||||||||||  sapropterin / Generic mfg., amantadine / Generic mfg.
    Journal:  Adapted Milwaukee protocol for rabies treatment in a Brazilian indigenous child: case report. (Pubmed Central) -  Oct 26, 2024   
    The challenges identified are common fundamental challenges in health-economic modeling of rare diseases. The findings suggest that while the Milwaukee Protocol offers some hope, significant obstacles remain in achieving successful outcomes in rabies cases.
  • ||||||||||  sapropterin / Generic mfg.
    Journal:  Navigating social determinants of health barriers in the management of phenylketonuria. (Pubmed Central) -  Sep 23, 2024   
    Despite responsiveness to sapropterin, this patient has had periods of poor metabolic control throughout her life due to her family's economic hardships, including limited access to transportation, housing, food, and health insurance. This case illustrates how social determinants of health may negatively affect rare disease management and potential strategies for addressing barriers to care.
  • ||||||||||  sapropterin (RLF-OD032) / Relief Therap
    Enrollment open:  Study on Sapropterin Dihydrochloride Oral Suspension in Healthy Subjects (clinicaltrials.gov) -  Jul 31, 2024   
    P1,  N=16, Recruiting, 
    Close monitoring and optimisation of protein intake prescriptions are needed, along with future guidelines specifically for different age groups and severities. Not yet recruiting --> Recruiting
  • ||||||||||  sapropterin / Generic mfg.
    NUTRITIONAL THERAPY IN A MALE INDIVIDUAL WITH LATE DIAGNOSED PKU (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_990;    
    Lifelong monitoring of all individuals with PKU is recommended. Palavras-chave : phenylketonuria, nutritional therapy, leukencephalopathy, transition, quality of life
  • ||||||||||  sapropterin / Generic mfg.
    REASSESSMENT OF RESPONSE TO SAPROPTERIN IN ADULTS WITH PHENYLKETONURIA (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_987;    
    Discussion/Conclusion Re-assessment of 48-hour BH4 response is recommended in adult PKU patients who have previously shown a partial response in 24-hour BH4 loading test (even those with potentially non-responsive allelic variants particularly when number of reported records at databases are too low). Consideration should always be given to factors such as the length of the test, percentage of Phe reduction and causes of Phe fluctuations.Palavras-chave : BH4, tetrahydrobiopterin, adults
  • ||||||||||  sapropterin / Generic mfg.
    GENOTYPE-BASED PHENOTYPE DETERMINATION PREDICTS LACK OF BH4 RESPONSIVENESS IN A MAJORITY OF PKU PATIENTS (Poster Room | Level 0) -  Jul 30, 2024 - Abstract #SSIEM2024SSIEM_797;    
    Strengths included the use of multiple models, including ML NMR, to validate findings from the NMA; results were consistent across models, which supported the robustness of these findings. Large PKU patient databases with genotype and phenotype information enable BH4 responsiveness prediction and identify that the majority of PKU patients are unlikely to respond to cofactor therapy and would benefit from new therapies that work across PAH variants.
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo
    Trial completion date, Trial primary completion date:  Exercise and NO in HFrEF (clinicaltrials.gov) -  Jun 26, 2024   
    P1,  N=140, Recruiting, 
    The severity of PKU and the available treatments and resources may impact the blood Phe control achieved by each treatment centre. Trial completion date: May 2025 --> May 2026 | Trial primary completion date: May 2024 --> May 2025
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo, Palynziq (pegvaliase-pqpz) / BioMarin
    Review, Journal:  Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria. (Pubmed Central) -  May 27, 2024   
    For more severe forms, daily injections of pegvaliase, a PEGylated variant of phenylalanine ammonia-lyase (PAL), may allow for normalization of blood Phe levels...However, the latter treatment has considerable drawbacks, notably a strong immunogenicity of the exogenous enzyme and the attached polymeric chains. Research for novel therapies of PKU has made use of innovative materials for drug delivery and state-of-the-art protein engineering techniques to develop treatments which are safer, more effective, and potentially permanent.
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo, Palynziq (pegvaliase-pqpz) / BioMarin
    Developing a probiotic therapy for phenylketonuria using bacterial and enzyme engineering (In-person; Gravier F Ballroom (New Orleans Marriott Warehouse Arts District)) -  Mar 12, 2024 - Abstract #ACSSp2024ACS_Sp_13605;    
    While PKU patients are responsive to the FDA-approved drugs sapropterin and pegvaliase, there is room for development of new therapeutic modalities...Performing parallel studies in multiple bacterial species will allow us to assess species-specific and universal contributors of activity and expression level. Finally, we explore transporter engineering to increase phenylalanine uptake by LAB to further enhance phenylalanine conversion to trans -cinnamic acid.
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo
    Journal:  Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan (Pubmed Central) -  Mar 4, 2024   
    P=N/A
    Results demonstrate that exposure to sapropterin during pregnancy was well-tolerated and facilitated maintenance of blood Phe levels within the target range, resulting in normal delivery. This critical real-world data may facilitate physicians and patients to make informed treatment decisions about using sapropterin in pregnant women with PKU and in women of childbearing age with PKU who are responsive to sapropterin.
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo
    Journal:  Integrated genomic network analysis revealed potential of a druggable target for hemorrhoid treatment. (Pubmed Central) -  Nov 15, 2023   
    Three of these drugs (ketamine, methylene blue, and fulvestrant) hold potential in addressing issues associated with hemorrhoids and have been supported by clinical or preclinical studies...This study illustrates the potential of combining genomic network analysis with bioinformatics to repurpose drugs for treating hemorrhoids. Subsequent research will explore the mechanisms for utilizing NOS3 targeting in the treatment of hemorrhoids.
  • ||||||||||  Kuvan (sapropterin) / Merck (MSD), BioMarin, Daiichi Sankyo
    A National Referral Clinic for Phenylketonuria (PKU) patients- treatment from a dietician`s point of view. (Exhibitions Hall (ICC)) -  Jul 11, 2023 - Abstract #SSIEM2023SSIEM_701;    
    There were significant positive changes in food patterns, behaviors and burden of care in children with PKU and their families after 6-months on sapropterin treatment. Based on the large cohort established by the centralized care for PKU in Israel, we provide a large-scale information about patients with PKU in Israel who receive SAP treatment according to the classification of the disease, the frequency of the types of diets in which they are treated according to the classification of the disease, the patients` adherence to the nutritional treatment according to the type of recommended diet and our experience with reducing dietary restrictions for those treated with SAP.
  • ||||||||||  synthetic sepiapterin (PTC923 PKU) / PTC Therap
    Phase 3 APHENITY long-term study: Sepiapterin for treatment of phenylketonuria (Exhibitions Hall (ICC)) -  Jul 11, 2023 - Abstract #SSIEM2023SSIEM_692;    
    P3
    Secondary endpoints are change from baseline in QOL (PKUQOL questionnaire, EuroQOL 5 Dimension), pharmacokinetics, and sepiapterin palatability/acceptability in children. It is anticipated that sepiapterin will be well tolerated and an increase in dietary Phe/protein consumption will be observed with daily administration of sepiapterin.
  • ||||||||||  Kuvan (sapropterin) / Merck (MSD), BioMarin, Daiichi Sankyo
    A Large retrospective case series of managmnent of mothers with hyperphenylalaninaemia during pregnancy. (Exhibitions Hall (ICC)) -  Jul 11, 2023 - Abstract #SSIEM2023SSIEM_491;    
    We found that between our sites frequency of blood spot monitoring differed indicating that a standardisation of care in Hyperphe during pregnancy is required. A future collaborative, larger cohort data review on dietetic management, Phe levels, new-born screening and genetic testing would support the understanding and development of the best practice for this group of patients.
  • ||||||||||  Kuvan (sapropterin) / Merck (MSD), BioMarin, Daiichi Sankyo
    Journal:  Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. (Pubmed Central) -  Jul 7, 2023   
    Moreover, all cases had a higher than 30% decrease in PHE level by the tetrahydrobiopterin (BH4) loading test, and all of them showed significant clinical improvements after treatment except for one that showed only a moderate improvement...MHP is not a mild disease as it may be related to neurotransmitter disorders. Sapropterin, L-DOPA, and 5-HT are always used for patients suspected of having neurotransmitter diseases, particularly those with MHP.
  • ||||||||||  synthetic sepiapterin (PTC923 PKU) / PTC Therap
    Phase 3 APHENITY study: Oral sepiapterin for treatment of phenylketonuria (Ussishkin (ICC)) -  Jul 6, 2023 - Abstract #SSIEM2023SSIEM_217;    
    P3
    Secondary endpoints are % of subjects with baseline Phe levels ?600 ?mol/L who reach levels 600 ?mol/L at the end of study, PK, and safety. This study was designed to support registration of sepiapterin for PKU and it is anticipated that a greater reduction in blood Phe will be observed after treatment with sepiapterin vs. placebo.
  • ||||||||||  Kuvan (sapropterin) / BioMarin, Daiichi Sankyo
    Trial completion date, Trial primary completion date:  Exercise and NO in HFrEF (clinicaltrials.gov) -  Jun 8, 2023   
    P1,  N=140, Recruiting, 
    Healthcare of patients with PKU should include prevention and management of comorbidities and especially target PKU-specific treatment adherence and consistent care in specialized medical centers in adulthood. Trial completion date: May 2024 --> May 2025 | Trial primary completion date: May 2023 --> May 2024
  • ||||||||||  sapropterin / Generic mfg.
    Trial completion:  KOGNITO: Kuvan (clinicaltrials.gov) -  Apr 24, 2023   
    P4,  N=34, Completed, 
    Concordant results were obtained using VAMS and plasma methods, which demonstrated that VAMS is a reliable method for clinical applications to monitor blood Phe for PKU patients. Active, not recruiting --> Completed
  • ||||||||||  Kuvan (sapropterin) / Merck (MSD), BioMarin, Daiichi Sankyo, Palynziq (pegvaliase) / BioMarin
    Journal:  Charles Scriver: Epitome of the physician scientist. (Pubmed Central) -  Dec 13, 2022   
    His laboratory also led the development of phenylalanine ammonia lyase (Palynziq®), an enzyme substitution therapy that now serves as an alternative to dietary treatment for PKU...Charles Scriver's life is one well lived. An extraordinary physician scientist whose accomplishments are cause for pause and wonder; generating volumes of contribution which will forever seem impossible for one individual to deliver.