Patient with alagille syndrome. Medical search. Frequent questions

the treatment of cholestatic pruritus in patients 12 months of age and older with Alagille syndrome (ALGS). (nih.gov)
Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. (wikipedia.org)
Though individuals with ALGS have several body systems affected, there is a subset of individuals with JAG1 mutations who present with tetralogy of fallot/pulmonary stenosis that do not show the other clinical signs of the syndrome. (wikipedia.org)
Odevixibat is used to treat pruritus (skin itching) in patients with progressive familial intrahepatic cholestasis (PFIC) and alagille syndrome (ALGS). (drugs.com)
Appropriate studies have not been performed on the relationship of age to the effects of odevixibat in children younger than 3 months of age with progressive familial intrahepatic cholestasis (PFIC) and in children younger than 12 months of age with alagille syndrome (ALGS) . (drugs.com)
In addition, Mirum has an expanded access program open across multiple countries for eligible patients with ALGS and PFIC. (blackradionetwork.com)
Jul 25, 2023 FOSTER CITY, Calif.-(BUSINESS WIRE)- Mirum Pharmaceuticals, Inc. (Nasdaq: MIRM) today announced that LIVMARLI® (maralixibat oral solution) has been authorized by Health Canada for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS). (chiesiventures.com)
Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS). (ucbraid.org)
12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC]. (ucbraid.org)
BOSTON, March 29, 2022 (GLOBE NEWSWIRE) -- Albireo Pharma, Inc. (Nasdaq: ALBO), a rare liver disease company developing novel bile acid modulators, today announced the completion of patient enrollment in the ASSERT study, a Phase 3 pivotal trial of Bylvay (odevixibat) in patients with Alagille syndrome (ALGS). (pharmashots.com)
ASSERT is a gold standard, global, double-blind, randomized, placebo-controlled trial designed to evaluate the safety and efficacy of Bylvay in patients with ALGS over 24 weeks. (pharmashots.com)
The program is available in the U.S. and Europe, which aims to provide access to Bylvay for patients suffering from ALGS, prior to the product's planned approval and reimbursement. (pharmashots.com)
This program is available for patients with a clinical diagnosis of ALGS who have no other therapeutic options. (pharmashots.com)
The double-blind, randomized, placebo-controlled trial is designed to evaluate the safety and efficacy of 120 µ g /kg/day Bylvay (odevixibat) for 24 weeks in relieving pruritus in patients with ALGS. (pharmashots.com)
The trial enrolled patients aged 0 to 17 years of age with a genetically confirmed diagnosis of ALGS. (pharmashots.com)
Livmarli can be used as treatment of cholestatic pruritus in patients with alagille syndrome (algs). (greyb.com)
Alagille syndrome (ALGS) is a rare pediatric disorder of the liver characterized by debilitating pruritus. (naspghan.org)
In this session, Dr. Robert Venick will review key information on ALGS, discuss ways to uncover the impact of cholestatic pruritus on patients and caregivers, and examine the evolving treatment landscape of ALGS. (naspghan.org)

the treatment of pruritus in patients 3 months of age and older with progressive familial intrahepatic cholestasis (PFIC). (nih.gov)
The Fred and Suzanne Biesecker Pediatric Liver Center at CHOP actively supports basic, clinical and translation liver research, with a focus on biliary atresia, and other developmental liver disorders such as Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC). (chop.edu)
BOSTON, Sept. 15, 2021 (GLOBE NEWSWIRE) -- Albireo Pharma, Inc. (Nasdaq: ALBO), a rare pediatric liver disease company developing novel bile acid modulators, today announced that Bylvay (odevixibat), the first drug approved in Europe for the treatment of all types of progressive familial intrahepatic cholestasis (PFIC), is now available by prescription to patients in Germany. (teletrader.com)
An ileal sodium/bile acid cotransporter inhibitor indicated in the treatment of pruritus in patients with progressive familial intrahepatic cholestasis. (drugbank.com)

Chromosomal analysis for mutations within the JAG1 gene (20p12) confirms the diagnosis of Alagille syndrome. (medscape.com)
Mutations in either jagged-1 ( JAG1 ) or notch-2 ( NOTCH2 ) have been reported in patients with Alagille syndrome. (medscape.com)
At least 226 mutations in the JAG1 gene have been identified in people with Alagille syndrome. (medlineplus.gov)
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. (medscape.com)
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (medscape.com)
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (medscape.com)
In patients with other types of PFIC, including those with FIC1 deficiencies or mutations in TJP2, MDR3 , or MYO5B , observer-reported ItchRO scores declined 1.9 points with maralixibat and 0.5 points with placebo at 12 weeks ( P =0.0029). (medpagetoday.com)
Increasing the mutation rate for Jagged1 mutations in patients with Alagille syndrome. (cdc.gov)
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (cdc.gov)
Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population. (cdc.gov)

BYLVAY is indicated for the treatment of pruritus in patients 3 months of age and older with PFIC. (nih.gov)
BYLVAY may not be effective in a subgroup of PFIC type 2 patients with specific ABCB11 variants resulting in non-functional or complete absence of the bile salt export pump protein [see Clinical Pharmacology (12.5) and Clinical Studies (14) ]. (nih.gov)
With the availability of Bylvay in Germany, we are now able to offer the first non-surgical treatment option to the PFIC patients who are experiencing difficult developmental and physical symptoms," said Ekkehard Sturm, M.D., Ph.D., Pediatric Hepatologist and Head of Pediatric Gastroenterology-Hepatology, Liver and Intestinal Transplantation at Children's Hospital, University of Tüebingen in Germany. (teletrader.com)
Sales promotion has already begun, with Albireo commercial staff covering the key centers to inform them of the availability of Bylvay for the treatment of PFIC and the patient support services available. (teletrader.com)
We are excited to bring the first drug treatment option to PFIC patients in Germany, which has the largest market potential in Europe," said Pamela Stephenson, Chief Commercial Officer of Albireo. (teletrader.com)
The PFIC patients around the world who are experiencing extreme challenges and diminished quality of life underscore our urgency to continue on our path towards global availability," said Ron Cooper, President and CEO of Albireo. (teletrader.com)
Bylvay is currently being evaluated in the ongoing PEDFIC 2 open-label trial in patients with PFIC, ASSERT Phase 3 study for Alagille syndrome and in the BOLD Phase 3 study for patients with biliary atresia. (teletrader.com)
Mirum has also submitted LIVMARLI for approval in the U.S. in cholestatic pruritus in PFIC patients three months of age and older and in Europe in PFIC for patients two months of age and older. (businesswire.com)
[ 10 ] In a immunohistochemical study, BSEP was not detected in the canalicular membrane in PFIC patients having ABCB11 mutation, in contrast to patients with PFIC1 or PFIC3. (medscape.com)
This suggests that in most patients with PFIC-2, the gene defect is sufficiently severe to produce no product or a protein that cannot be inserted into the canalicular membrane. (medscape.com)
MARCH-PFIC enrolled 93 patients (ages 1 to 17 years) and randomized them 1:1 to either maralixibat or placebo. (medpagetoday.com)
Bylvay is a potent, once-daily, non-systemic ileal bile acid transport inhibitor (IBATi) already approved in the U.S. for the treatment of pruritus in patients 3 months of age and older in all types of PFIC, and in Europe for the treatment of all types of PFIC in patients aged 6 months or older. (pharmashots.com)

[ 4 , 5 ] The syndrome has been mapped to the 20p12-jagged-1 locus, JAG1 , which encodes a ligand critical to the notch gene-signaling cascade that is important in fetal development. (medscape.com)
More than nine out of ten people with Alagille syndrome have a mutation (change) in a gene called JAG1. (childliverdisease.org)
We have two copies of each gene in our body but only one of the NOTCH2 or JAG1 genes needs to be affected to cause Alagille syndrome. (childliverdisease.org)
More recently JAG1 expression has been found to be altered in breast cancer and adrenocortical carcinoma patients. (wikipedia.org)
Patients who are clinically consistent with the disorder usually have a mutation in JAG1 (94%), while a smaller 2% have a mutation in NOTCH2. (wikipedia.org)
Since all mutation types lead to a patient phenotype, it is thought that haploinsufficiency for JAG1 is the likely disease mechanism of action. (wikipedia.org)
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. (medlineplus.gov)
As proof of principle, we applied DUCT to a mouse model for Alagille syndrome ( Jag1 Ndr/Ndr mice), characterized by intrahepatic bile duct paucity, that can spontaneously generate a biliary system in adulthood. (elifesciences.org)
She has a child [who is one of our patients] who has a known JAG1 mutation. (consultantlive.com)
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. (cdc.gov)

An eye condition called posterior embryotoxon can occur in people with Alagille syndrome. (childliverdisease.org)

Typical facial features of Alagille syndrome. (medscape.com)
What are the features of Alagille syndrome? (childliverdisease.org)
In addition to liver disease, heart problems are one of the most common features of Alagille syndrome. (childliverdisease.org)
If your child has some of the features of Alagille syndrome there are a number of tests which can be carried out to find out if Alagille syndrome is the cause. (childliverdisease.org)
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. (medscape.com)

Diseases associated with NOTCH2 include Alagille syndrome 2 and Haydu-Cheney syndrome . (altmeyers.org)

In four out of ten cases, the gene which causes Alagille syndrome has been passed down from a parent to their child. (childliverdisease.org)
Most cases of Alagille syndrome happen because of a change in a specific gene. (childrens.com)
A parent with the syndrome has a 50 percent chance of passing the abnormal gene that causes the condition to each child. (rileychildrens.org)
A blood test will show if the parent/s and the child carries the Alagille gene. (rileychildrens.org)
People with neonatal Alagille syndrome have a mutated or missing copy of a gene labeled Jagged1 on chromosome 20. (drallencherer.net)

Alagille syndrome is also referred to as Alagille-Watson syndrome, syndromic bile duct paucity, or arteriohepatic dysplasia. (drallencherer.net)

Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. (medscape.com)
Ocular abnormalities in Alagille syndrome. (medscape.com)
Due to a variety of skeletal abnormalities, people with neonatal Alagille syndrome tend to have a very characteristic appearance. (drallencherer.net)

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients. (cdc.gov)

Alagille syndrome is an autosomal dominant disorder with variable expression. (medscape.com)
Introduction: Alagille syndrome (AGS) is an autosomal dominant disease with variable expressiveness that can affect the liver, heart, kidneys, blood vessels, eyes, face and skeleton. (bvsalud.org)

Dufour JF, Pratt DS (2001) Alagille syndrome with colonic polyposis. (altmeyers.org)

Many children with Alagille syndrome show jaundice and other signs of liver disease in the early months after being born. (childrens.com)
A child who is born with Alagille syndrome will experience jaundice (yellowing of the skin and whites of the eyes), pale, loose stool and failure to thrive . (rileychildrens.org)
Doctors will do further blood tests on babies who have jaundice and some or all of the other common symptoms of Alagille syndrome. (rileychildrens.org)
The average age at onset is 3 months, although some patients do not develop jaundice until later, even as late as adolescence. (medscape.com)
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. (cdc.gov)

At Children's Health℠, kids with Alagille syndrome are seen by liver, heart, kidney and other experts who address all their health needs as one team so they can grow up healthy and happy. (childrens.com)

Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. (medlineplus.gov)

There are a lot of folks out there…with Alagille who [never have received a diagnosis] and have no idea that they have it. (consultantlive.com)

Krantz ID et al (2002) Alagille syndrome: chipping away at the tip of the iceberg. (altmeyers.org)

Individuals with Alagille syndrome may have fewer bile ducts than normal. (childliverdisease.org)

Research in the lab and at the bedside offer new hope for young patients with biliary atresia, Alagille syndrome and other chronic liver disorders. (chop.edu)
LIVMARLI, an oral ileal bile acid transporter (IBAT) inhibitor, is currently being evaluated in clinical trials for pediatric liver diseases and includes the EMBARK Phase 2b clinical trial for patients with biliary atresia. (blackradionetwork.com)
Completing enrollment of the Phase 3 ASSERT study, while continuing to enroll biliary atresia patients in the Phase 3 BOLD study, are significant steps in our clinical development and scientific leadership in bile acid modulation for the treatment of liver diseases. (pharmashots.com)
The Company continues to enroll and dose patients in the Phase 3 BOLD study, which is the first and only pivotal trial of an IBATi in biliary atresia, that passed the 50% enrollment milestone and remains on track for topline data in 2024. (pharmashots.com)

It differs from person to person and even two people in the same family with Alagille syndrome can have different features and symptoms. (childliverdisease.org)
Because the variety of potential symptoms and health impacts is so wide, children with Alagille syndrome should receive care from a multidisciplinary team, who can care for their full range of needs. (childrens.com)
What are the signs and symptoms of Pediatric Alagille Syndrome? (childrens.com)
In particular, some affected individuals have a particular combination of heart defects known as tetralogy of Fallot without other signs or symptoms of Alagille syndrome. (medlineplus.gov)
We are hopeful that Bylvay will help patients avoid complications associated with surgery and provide them with much needed relief from their symptoms. (teletrader.com)
Cholbam is FDA-approved for the treatment of bile acid synthesis disorders due to single enzyme deficiencies and adjunctive treatment of peroxisomal disorders in patients who show signs or symptoms or liver disease. (businesswire.com)
What Are the Neonatal Alagille Syndrome Symptoms? (drallencherer.net)
Not all people with neonatal Alagille syndrome have the same symptoms present. (drallencherer.net)
Treatment for neonatal alagille syndrome typically relies on what symptoms the patient is presenting. (drallencherer.net)

Scholars@Duke publication: Wilms Tumor After Orthotopic Liver Transplant in a Patient With Alagille Syndrome. (duke.edu)
We present a case of Wilms Tumor in a patient with Alagille syndrome 10 months after liver transplant. (duke.edu)
We also discuss the diagnostic and therapeutic challenges that can arise in a liver transplant patient with Alagille syndrome who subsequently develops a renal mass. (duke.edu)
Understanding the architecture of the tubes in their livers could explain why some children with this syndrome improve with time, but many others need a liver transplant. (elifesciences.org)
There's a good chance that we are going to rescue 50% of patients, who will ultimately not require transplant in the future. (medpagetoday.com)
We also coordinate with hepatology and transplant teams at the University of Kansas Medical Center to offer comprehensive care as our teenage patients transition to adulthood. (childrensmercy.org)
The patients frequently require a liver transplant, but donor's livers are limited, and not all children qualify. (justcarehealth.com)

Alagille syndrome is caused by a mutation that prevents the formation and regeneration of bile ducts in the liver. (justcarehealth.com)

Updated results from the HIMALAYA Phase III trial showed AstraZeneca's Imfinzi (durvalumab) plus Imjudo (tremelimumab) demonstrated a sustained, clinically meaningful overall survival (OS) benefit at four years for patients with unresectable hepatocellular carcinoma (HCC) who had not received prior systemic therapy and were not eligible for localised treatment. (medicalupdateonline.com)
An ad-hoc exploratory analysis showed that the treatment effects of the STRIDE regimen versus sorafenib were consistent across all clinically relevant subgroups of patients, as well as those surviving at least three years, regardless of the underlying disease cause (hepatitis B virus [HBV], hepatitis C virus [HCV] or nonviral) or other baseline demographics. (medicalupdateonline.com)

For another cholestatic disease, Alagille's syndrome, which also affects other organs as well as trhe immune system, Fischler is collaborating with Emma Andersson's research group at KI, which has developed a mouse model. (ki.se)

Bylvay does not require refrigeration and can be taken as a capsule for older children, or opened and sprinkled onto food, which are factors of key importance for adherence in a pediatric patient population. (teletrader.com)
Objective: To describe a case of a pediatric patient with Alagille syndrome. (bvsalud.org)

The genetics and ocular findings of Alagille syndrome. (medlineplus.gov)

For example, babies with Alagille syndrome are born with few or no bile ducts, resulting in serious liver disease. (elifesciences.org)
Children with Alagille syndrome have striking deficiencies in vitamins A, D, E and K and require supplementation of these vitamins, sometimes in doses that are 20 times what normal babies require. (rileychildrens.org)

[ 2 ] Then in 1975, Alagille et al described several patients with hypoplasia of the hepatic ducts with associated features. (medscape.com)
Alagille D et al (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. (altmeyers.org)

The patient was] a newborn with cholestasis. (consultantlive.com)
The so-called "posterior embryotoxon" is a white line 1-2 mm above the limbus corneae, which is found in 10% of all healthy individuals and 10% of all patients with cholestasis. (altmeyers.org)
Approximately 95% of patients with the condition present with chronic cholestasis, usually within the first three months of life, and as many as 88% also present with severe, intractable pruritus. (pharmashots.com)

Alagille syndrome affects around one in every 30,000 live births. (childliverdisease.org)
Alagille syndrome is a genetic disorder that usually affects the development and function of the liver. (childrens.com)
Alagille syndrome mainly affects your liver but can damage other parts of your body including your kidneys, heart, brain, eyes and skeleton. (kidneyfund.org)
Pancreatic insufficiency affects about one-third of children with Alagille syndrome. (rileychildrens.org)

A great example from recently in our clinic is a mother who had tetralogy of Fallot but didn't have any other known manifestations of Alagille. (consultantlive.com)
Garcia MA et al (2005) Alagille syndrome: cutaneous manifestations in 38 children. (altmeyers.org)

Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. (medscape.com)
and an exploratory cohort of 29 patients. (medpagetoday.com)

Some people have a very mild form of the condition and reach adulthood without knowing they have Alagille syndrome. (childliverdisease.org)

Living-related liver transplantation for Alagille syndrome. (medscape.com)
Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. (medscape.com)
Orthotopic liver transplantation for children with Alagille syndrome. (medscape.com)
It may be recommended if your liver has stopped working Living donor liver transplantation (LDLT) has emerged in recent decades as a critical surgical option for patients They need to have a family member or friend who is willing and able to donate their organ. (firebaseapp.com)
av MG till startsidan Sök - Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome. (firebaseapp.com)

LIVMARLI, an IBAT inhibitor, is approved for the treatment of cholestatic pruritus in patients with Alagille syndrome in the U.S. (three months and older), in Europe (two months and older), and in Canada. (businesswire.com)
Mirum's approved medication is LIVMARLI ® (maralixibat) oral solution which is approved in the U.S. for the treatment of cholestatic pruritus in patients with Alagille syndrome three months of age and older, and in Europe for the same indication in patients two months of age and older. (blackradionetwork.com)
An ileal bile acid transporter inhibitor indicated to treat cholestatic pruritus in patients with Alagille syndrome. (drugbank.com)

Active research at CHOP and around the world seeks to understand the underlying pathophysiology of BA to improve care for these vulnerable patients. (chop.edu)

Neonatal Alagille Syndrome is a type of genetic disorder that children can inherit from their parents. (drallencherer.net)

If we know or suspect your child has Alagille syndrome, we do additional tests to check on their liver, kidneys, heart and other organs that are often affected by the disease. (childrens.com)
ARCH helps to diagnose children with midaortic syndrome and related conditions, including renovascular hypertension (high blood pressure from decreased blood flow to the kidneys), and better understand the underlying cause. (stlouischildrens.org)

Results from the phase 3 VICTORIA trial (n = 5050) showed that in patients with symptomatic chronic HF (New York Heart Association class II-IV) and left ventricular ejection fraction of less than 45%, vericiguat was superior to placebo in reducing the risk of cardiovascular death or heart failure hospitalization. (medscape.com)

YOU can make a BIG difference for kidney patients. (kidneyfund.org)
Children with Alagille syndrome may have kidney cysts or a mild form of a kidney condition called kidney tubular acidosis. (rileychildrens.org)

Roughly 1 out of 70,000 newborns is born with neonatal Alagille syndrome. (drallencherer.net)
Here are some important facts that parents need to know about neonatal Alagille syndrome. (drallencherer.net)
How Is Neonatal Alagille Syndrome Treated? (drallencherer.net)

A liver biopsy means we study a small sample of liver tissue, which can have certain characteristics that indicate Alagille's syndrome. (childrens.com)

NIDDK research creates knowledge about and treatments for diseases that are among the most chronic, costly, and consequential for patients, their families, and the Nation. (communityliveralliance.org)

Renal anomalies in Alagille syndrome: A disease-defining feature. (medscape.com)
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. (medscape.com)

Alagille syndrome can affect multiple organs in the body. (childrens.com)
Alagille syndrome can affect other organs too. (childrens.com)
Sometimes Alagille syndrome doesn't do any harm to other organs, but sometimes it can have a serious effect. (childrens.com)
When a child is diagnosed with midaortic syndrome - a rare condition where part of the aorta (the largest blood vessel coming from the heart) and its major branches narrow - this can lead to an impaired blood flow to vital organs. (stlouischildrens.org)
Middle aortic syndrome, also known as midaortic syndrome - narrowing of part of the aorta (the main artery of the heart) and its major branches, leading to impaired blood flow to vital organs in the chest, abdomen and the lower limbs. (stlouischildrens.org)

Renal involvement and the role of Notch signalling in Alagille syndrome. (medscape.com)

ARCH offers world-class care from Washington University specialists in pediatric nephrology, pediatric interventional cardiology and vascular surgery, along with their fellow St. Louis Children's Hospital clinicians to provide unified care of the whole patient in a single center. (stlouischildrens.org)

Children and adults with Alagille syndrome often share physical features including a prominent forehead, deep-set eyes and a small chin. (childliverdisease.org)
Children with Alagille syndrome typically have deep, wide-set eyes, a round forehead and a pointed chin, though this may not be apparent until later in life. (rileychildrens.org)

Once Bylvay is prescribed, healthcare providers and families will have the option to use Albireo Assist ® , which is a customized patient support program built with input from medical experts and patient advocates that aims to support patients and caregivers throughout their treatment journey. (teletrader.com)
For more information on this program, please visit https://www.albireopharma.com/patients-families/patient-access . (teletrader.com)
The 9th International Symposium on Alagille Syndrome will be held virtually this year on the MyCityMed fully integrated platform as it allows more families to participate, according to an announcement on the Alagille Syndrome Alliance website. (medjournal360.com)
Families coping with Alagille syndrome are deeply in need of more therapeutic options, as evidenced by the completed enrollment for our Phase 3 ASSERT study, consistent with guidance, while exceeding our original enrollment target," said Ron Cooper, President and Chief Executive Officer of Albireo. (pharmashots.com)
Aligned to the Company's mission of providing hope for families, Albireo continues to prioritize access and continued scientific research for patients living with rare cholestatic liver diseases. (pharmashots.com)

As I mentioned to Jennifer, I looked across the room and the mother clearly had facies that looked like Alagille syndrome. (consultantlive.com)

A multidisciplinary team of pediatric liver specialists evaluates and manages the care of children with all forms of liver disease, providing patients with the latest diagnostic tools, evidence-based treatment and optimal longterm outcomes. (chop.edu)
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. (cdc.gov)

Beyond this important clinical milestone, we continue to deliver on our promise to increase access to Bylvay for all eligible patients and are pleased to announce the opening of an Expanded Access Program for Alagille syndrome patients. (pharmashots.com)

In children with Wilms Tumor, we propose a pathoembryologic explanation for not just the tumor, but also for the cause of associated benign ureteral and renal parenchymal aberrancies that are commonly seen in the Alagille population. (duke.edu)
These features do not make children look abnormal, they are simply common across those with Alagille syndrome. (childliverdisease.org)
Our team cares for a range of pediatric heart patients, including children who are recovering from heart surgery or transplantation. (stanfordchildrens.org)
Lykavieris P et al (2003) Bleeding tendency in children with Alagille syndrome. (altmeyers.org)
Many children with midaortic syndrome experience severe hypertension, which is addressed using medical, endovascular, and surgical approaches depending on each patient's need. (stlouischildrens.org)
Children with this syndrome will typically experience a progressive loss of the bile ducts inside the liver and a narrowing of the bile ducts outside the liver within the first year of life. (rileychildrens.org)
Children with this syndrome are often shorter than their peers, even when they receive adequate nutrition. (rileychildrens.org)
The spinal bones of children with Alagille syndrome may be shaped as the wings of a butterfly. (rileychildrens.org)
A certain type of fat called medium-chain triglycerides (MCT) is absorbed well in children with Alagille syndrome. (rileychildrens.org)
Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. (medscape.com)
Lipoprotein pattern and plasma lecithin cholesterol acyl transferase activity in children with Alagille syndrome. (medscape.com)
Many children have mild enough Alagille syndrome that they just need to eat a healthy diet and get plenty of rest to help with issues like delayed puberty or failure to thrive. (drallencherer.net)

Here you'll discover relevant resources, updates on Alagille Syndrome research, clinical trials of interest, free materials, and phone support. (alagille.org)

All patients, except those with peripheral pulmonic stenosis, require subacute bacterial endocarditis prophylaxis. (medscape.com)

Anatomy2

Diseases4

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes1

ALGS18

Progressive Familial In4

Mutations10

PFIC12

JAG110

People with Alagille syndrome1

Features of Alagille syndrome5

Include Alagille syndrome1

Gene5

Arteriohepatic dysplasia1

Abnormalities3

NOTCH21

Autosomal2

20011

Jaundice5

Children's Health1

Jagged11

Diagnosis1

20021

Fewer bile ducts1

Biliary atresia4

Symptoms9

Transplant7

Mutation1

Clinically2

Cholestatic disease1

Pediatric patient2

Ocular1

Babies2

19752

Cholestasis3

Affects4

Manifestations2

Cohort2

Adulthood1

Liver transplantation5

Pruritus in patients3

Pathophysiology1

Disorder1

Kidneys2

Cardiovascular1

Kidney2

Neonatal3

Alagille's1

Chronic1

Anomalies2

Organs5

Notch1

Vascular1

Forehead2

Families5

Facies1

Diagnostic2

Bylvay1

Children12

Clinical trials1

Pulmonic1