Melissa Lah
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View article: OR35-07 The Glycemic Outcomes of Diazoxide Choline Extended-Release (DCCR) Tablets for Administered for Hyperphagia in Individuals with Prader-Willi Syndrome Over 4 Years
OR35-07 The Glycemic Outcomes of Diazoxide Choline Extended-Release (DCCR) Tablets for Administered for Hyperphagia in Individuals with Prader-Willi Syndrome Over 4 Years Open
Disclosure: A.H. Shoemaker: Soleno Therapeutics, Inc. J.A. Yanovski: Soleno Therapeutics, Inc. E.F. Gevers: Soleno Therapeutics, Inc. K.S. Obrynba: Soleno Therapeutics, Inc. M.D. Lah: Soleno Therapeutics, Inc. P. Salehi: Soleno Therapeutic…
View article: MON-662 Characterization of Peripheral Edema in Individuals with Prader-Willi Syndrome During Long-term Administration of Diazoxide Choline Extended-Release Tablet (DCCR) Over 4.5 Years
MON-662 Characterization of Peripheral Edema in Individuals with Prader-Willi Syndrome During Long-term Administration of Diazoxide Choline Extended-Release Tablet (DCCR) Over 4.5 Years Open
Disclosure: A.H. Shoemaker: Soleno Therapeutics, Inc. J.A. Yanovski: Soleno Therapeutics, Inc. K.S. Obrynba: Soleno Therapeutics, Inc. M. Lah: Soleno Therapeutics, Inc. P. Salehi: Soleno Therapeutics, Inc. S. Ballal: Soleno Therapeutics, I…
View article: Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial Open
Pegtibatinase was generally well tolerated and substantially reduced tHcy levels, demonstrating potential as a treatment for HCU.
View article: Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach Open
View article: P045: The assessment of the treatment and management landscape of phenylketonuria survey study: Findings from 19 clinics in the United States
P045: The assessment of the treatment and management landscape of phenylketonuria survey study: Findings from 19 clinics in the United States Open
View article: P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study
P015: Clinical characterization of classical homocystinuria due to cystathionine-beta synthase deficiency: Results from the ACAPPELLA study Open
View article: P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria
P047: Interim results from the APHENITY extension study: Sepiapterin reduces blood Phe with improved dietary Phe tolerance in participants with phenylketonuria Open
View article: Lessons learned from 5 years of pegvaliase in US clinics: A case series
Lessons learned from 5 years of pegvaliase in US clinics: A case series Open
View article: Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing Open
Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this…
View article: 7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome
7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome Open
Disclosure: E.F. Gevers: Advisory Board Member; Self; Pfizer, Inc., Soleno. Research Investigator; Self; Soleno Therapeutics, Inc.. Speaker; Self; Pfizer, Inc., Novo Nordisk, Soleno Therapeutics, Inc. J.L. Miller: Research Investigator; Se…
View article: The impact of clinical genome sequencing in a global population with suspected rare genetic disease
The impact of clinical genome sequencing in a global population with suspected rare genetic disease Open
View article: P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU*
P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU* Open
Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range which is safe for neurologic function. Elevated plasma Phe is a risk factor for congenital anomalies and developmental delay in offspring collectively know…
View article: P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial Open
Classical homocystinuria (HCU) is a rare genetic disorder of amino acid metabolism, where a lack of cystathionine β-synthase (CBS) activity results in the excessive accumulation of homocysteine (Hcy). HCU is associated with serious vascula…
View article: Diazoxide choline extended‐release tablet in people with <scp>Prader‐Willi</scp> syndrome: results from long‐term open‐label study
Diazoxide choline extended‐release tablet in people with <span>Prader‐Willi</span> syndrome: results from long‐term open‐label study Open
Objective This study assessed the effect of 1‐year administration of diazoxide choline extended‐release tablet (DCCR) on hyperphagia and other complications of Prader‐Willi syndrome (PWS). Methods The authors studied 125 participants with …
View article: Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health Open
View article: The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease
The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease Open
Clinical genome sequencing (cGS) holds promise as a unified diagnostic testing platform in patients with a suspected rare genetic disease (RGD), however its performance and impact on clinical management in a diverse global population has y…
View article: Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial Open
Context Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulti…
View article: OR10-2 Hormonal and Cardiometabolic Changes Associated with Diazoxide Choline Extended-Release (DCCR) Tablets in Patients with Prader-Willi Syndrome
OR10-2 Hormonal and Cardiometabolic Changes Associated with Diazoxide Choline Extended-Release (DCCR) Tablets in Patients with Prader-Willi Syndrome Open
Background Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental condition, characterized by hyperphagia, obesity, hormone deficiencies and behavioral/psychological manifestations. DCCR is under investigation as a treatment for …
View article: RF24 | PSUN94 Long-Term Safety of Diazoxide Choline Extended-Release (DCCR) Tablets in Patients with Prader-Willi Syndrome
RF24 | PSUN94 Long-Term Safety of Diazoxide Choline Extended-Release (DCCR) Tablets in Patients with Prader-Willi Syndrome Open
Background Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved…
View article: Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data Open
View article: Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic
Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic Open
View article: OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method.
OP006: Is it time to move beyond acylcarnitine profiles? Lessons from the clinical application of a high-definition LC-MS/MS acylcarnitine method. Open
View article: Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics Open
This case series provides real-world experience on the use of pegvaliase. Until data from registries and independent research become available, the data presented herein can support appropriate management of patients receiving pegvaliase i…
View article: Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling Open
Many of the patient's features are consistent with individuals reported with 5p13 duplication syndrome and similar cases of SMC5, including polyhydramnios, macrocephaly, dolichocephaly, pre-auricular pits, arachnodactyly, respiratory probl…
View article: Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency
Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency Open
View article: Cancer Genetic Counselors’ Current Practices and Attitudes Related to the Use of Tumor Profiling
Cancer Genetic Counselors’ Current Practices and Attitudes Related to the Use of Tumor Profiling Open
Tumor profiling (TP) is primarily used to identify driver mutations within a tumor for treatment purposes, but it may also identify germline mutations. Current involvement of cancer genetic counselors (GCs) in the TP process is not clear. …
View article: Mathematical model of gas-liquid-sand mixture separation in the four-phase separator of inertial type for subsea application
Mathematical model of gas-liquid-sand mixture separation in the four-phase separator of inertial type for subsea application Open