Anemia in the pediatric patient
7 Degenerative Health Diseases That Are Hereditary - Rolling Out
Degenerative diseases are a group of conditions characterized by the progressive deterioration of cells, tissues and organs. While some degenerative diseases arise due to environmental factors or lifestyle choices, others have a strong hereditary component. These hereditary degenerative diseases are passed down through families, with genetic mutations increasing the risk of developing the condition.
This article explores seven common hereditary degenerative diseases, outlining their symptoms, causes and potential management strategies. Understanding these conditions can empower individuals and families to seek early diagnosis and explore available treatment options.
1. Cystic fibrosis (CF)Cystic fibrosis (CF) is a life-threatening genetic disorder affecting multiple organs, primarily the lungs and digestive system. People with CF inherit a mutation in the CFTR gene, which disrupts the flow of salt and fluids in the body. This leads to thick, sticky mucus buildup in the lungs and digestive tract, causing a range of symptoms including:
There is currently no cure for CF, but treatment focuses on managing symptoms, preventing complications and maximizing quality of life. Treatments include medication to thin mucus, airway clearance techniques, antibiotics to fight lung infections and pancreatic enzyme replacement therapy to aid digestion.
2. Huntington's disease (HD)Huntington's disease (HD) is a progressive neurodegenerative disorder affecting the nerve cells in the brain. It is caused by a mutation in the Huntingtin gene, producing a toxic protein that damages brain cells. Symptoms typically appear between the ages of 30 and 50 and worsen over time. Common signs of HD include:
There is no cure for HD, but medications can help manage some symptoms like involuntary movements. Genetic counseling can be beneficial for individuals with a family history of HD, allowing them to make informed choices about family planning.
3. HemophiliaHemophilia is a group of inherited bleeding disorders characterized by a deficiency in specific blood clotting factors. This deficiency can lead to excessive bleeding after injuries, surgeries or even minor cuts. The two most common types are:
Symptoms of hemophilia can vary depending on the severity of the deficiency. They may include:
Hemophilia treatment typically involves replacing the missing clotting factor through infusions. Early diagnosis and treatment are critical to prevent serious complications like joint damage and internal bleeding.
4. Sickle cell disease (SCD)Sickle cell disease (SCD) is a group of inherited red blood cell disorders. A genetic mutation causes red blood cells to become sickle-shaped instead of round and flexible. These sickle-shaped cells get stuck in small blood vessels, causing pain, organ damage, and other complications.
Symptoms of SCD can vary but may include:
There is no cure for SCD, but treatments focus on managing symptoms, preventing complications, and improving quality of life. This can include pain medication, blood transfusions and hydroxyurea, a medication that can help reduce the frequency and severity of pain crises.
5. Neurofibromatosis (NF)Neurofibromatosis (NF) is a group of genetic disorders characterized by the abnormal growth of tumors in the nervous system and skin. There are three main types of NF:
Symptoms of NF can vary depending on the type and location of tumors. They may include:
There is no cure for NF, but treatment focuses on managing symptoms and preventing complications. This may involve surgery to remove tumors, pain medication and physical therapy to address any mobility issues.
6. Polycystic kidney disease (PKD)Polycystic kidney disease (PKD) is a group of inherited disorders characterized by the growth of multiple fluid-filled cysts in the kidneys. These cysts can enlarge over time, causing the kidneys to lose function. There are two main types:
Symptoms of PKD may not appear until later in life and can include:
There is no cure for PKD, but treatment focuses on managing symptoms, slowing the progression of the disease, and preventing complications. This may involve medication to control blood pressure, dietary changes and dialysis or kidney transplantation in severe cases.
7. Duchenne muscular dystrophy (DMD)Duchenne muscular dystrophy (DMD) is a progressive genetic disorder that weakens muscles throughout the body. It is caused by a mutation in the dystrophin gene, a protein essential for muscle function. DMD affects primarily males, with symptoms typically appearing in early childhood.
Signs of DMD include:
There is no cure for DMD, but treatment focuses on managing symptoms and maximizing quality of life. This may include physical therapy, occupational therapy, medication to slow muscle degeneration and supportive devices like wheelchairs and braces.
Living with hereditary degenerative diseases: Hope and supportHereditary degenerative diseases can be challenging, but significant progress is being made in research and treatment options. Early diagnosis and management are crucial for improving quality of life and slowing the progression of the disease. Genetic counseling can be valuable for individuals and families facing hereditary conditions.
Support groups and patient advocacy organizations can provide valuable resources, information and a sense of community for individuals living with these conditions. Remember, you are not alone. With ongoing research and a focus on managing symptoms, there is hope for a brighter future for those living with hereditary degenerative diseases.
Extended Half-Life FVIII Reduces Bleeds And Injections In Hemophilia A
Switching to rFVIIIFc significantly reduces bleeding rates and injection frequency for hemophilia A patients, enhancing treatment efficacy and quality of life.
Those with hemophilia A (HA) who switched from standard half-life factor VIII (FVIII)—a clotting protein these folks lack—to rFVIIIFc, an extended half-life recombinant version that remains in the bloodstream longer, experienced fewer bleeds, required less frequent injections and used less factor overall, according to a study published in Hematology.
The study findings highlight the therapy's effectiveness in reducing both disease and treatment burden for those with HA.
HA is a genetic bleeding disorder caused by a deficiency of FVIII, a protein essential for normal blood clotting. Folks with severe HA typically require prophylactic treatment with clotting factor concentrates (CFCs) to prevent bleeding and preserve joint health, as repeated bleeding into joints and muscles can cause excruciating pain.
Switching to rFVIIIFc significantly reduces bleeding rates and injection frequency for hemophilia A patients, enhancing treatment efficacy and quality of life. © Ulyana - stock.Adobe.Com
Standard half-life (SHL) FVIII products are effective at preventing bleeds but require frequent infusions, creating a significant treatment burden that can affect adherence and overall quality of life.
Extended half-life (EHL) FVIII products, including efmoroctocog alfa (rFVIIIFc), were developed to address these limitations. By remaining in the bloodstream longer, rFVIIIFc allows less frequent dosing while maintaining higher FVIII levels, improving bleed protection without increasing the risk of inhibitor development.
Approved for those with HA at all ages, rFVIIIFc has demonstrated sustained efficacy and safety in both clinical trials and real-world settings.
For example, the PREVENT study, conducted across 25 German hemophilia treatment centers, showed that individuals who switched to rFVIIIFc experienced a significant reduction in annualized bleeding rates (ABR), decreased injection frequency and lower factor consumption, similar to findings from the A-SURE study.
In the A-SURE study, researchers evaluated the effectiveness of switching from SHL FVIII to rFVIIIFc, measuring changes in bleeding rates, injection frequency and factor consumption in routine clinical practice.
This 24-month, non-interventional, phase 4 trial was conducted at multiple centers across Europe, comparing rFVIIIFc with SHL FVIII prophylaxis. Researchers also reviewed each participant's medical data from the 12 months before enrollment.
The study included patients who had received SHL FVIII prophylaxis for at least three months followed by rFVIIIFc for at least three months. Patients were excluded if they had used any other EHL FVIII product or had active FVIII inhibitors. Primary outcomes included ABR, annualized joint bleeding rate (AjBR), weekly injection frequency and weekly factor consumption (IU/kg).
Outcomes were compared for each patient before and after switching to rFVIIIFc, with analyses by age group and timing of the switch. Bleeding events were also tracked in six-month intervals, and safety outcomes were recorded.
Out of 131 patients aged 1 to 76, most began rFVIIIFc prophylaxis before enrollment (n=82), while others switched at enrollment (n=27) or after (n=22). Main reasons for switching were improved bleed prevention (47%), fewer injections (45%) and other factors (8%).
Results revealed that after switching to rFVIIIFc, the mean ABR decreased from 3.7 to 1.8—a reduction of 1.9 bleeds per year. The AjBR fell from 2.4 to 1.1, with the greatest improvements in older patients. Weekly injections decreased from 3.1 to 2.3 on average, while weekly factor consumption dropped from 89.7 to 84.1 IU/kg. Factor use declined in nearly all age groups, except children under 12, where it remained stable or slightly increased.
In addition, out of the 27 patients who switched at enrollment, ABR decreased from 3.4 to 2.6, weekly injections from 2.9 to 2.2 and factor use from 78.3 to 71.3 IU/kg. In a subgroup of 95 patients with six months of treatment before and after switching, more than half reported zero bleeds both before and after the switch, with rates around 56% to 59% over the first year.
These study findings highlight a number of strengths, including consistent results across age groups, similarities with the main A-SURE study and evidence that sustained FVIII levels may help protect joints. The study also suggests potential cost benefits from using less factor, although children under eight had a small increase, likely due to a small sample size.
The study also has its limitations. It looked back at existing data, used different methods to collect information and focused on patients who were already chosen as good candidates for switching treatments. There were fewer patients over 65, but the data still provide useful insights.
Authors note that the findings are still relevant today, since both SHL FVIII and rFVIIIFc are commonly used.
Based on the results, authors also indicate that rFVIIIFc seems to be a safe and effective option for those with HA of all ages. They suggest additional research be conducted to support the benefits of extended half-life FVIII products such as rFVIIIFc for managing HA.
Pfizer's Gene Therapy For Rare Genetic Bleeding ... - NBC Chicago
Pfizer on Wednesday said its experimental gene therapy for a rare genetic blood-clotting disorder succeeded in a large late-stage trial, paving the way for a potential approval.
The treatment for hemophilia A could become the company's second gene therapy to enter the U.S. Market after Beqvez, which was cleared in April for a less common type of the bleeding disorder called hemophilia B.
Pfizer is co-developing the therapy with Sangamo Therapeutics, whose shares closed nearly 40% higher on Wednesday following the data release before paring some of those gains. Pfizer's stock closed up more than 1%.
Pfizer is among several drugmakers to invest in the rapidly growing field of gene and cell therapies — one-time, costly treatments that target a patient's genetic source or cell to cure or significantly alter the course of a disease. Some industry health experts anticipate those therapies to replace traditional lifelong treatments that patients take to manage chronic conditions.
Hemophilia A is a lifelong disease caused by a lack of blood-clotting protein called factor VIII. Without enough of that protein, the blood cannot clot properly, increasing the risk of spontaneous bleeding and severe bleeding after surgery. The condition occurs in roughly 25 in every 100,000 male births worldwide, Pfizer said in a release, citing data.
Pfizer said its one-time treatment significantly cut the number of annual bleeding episodes in patients with moderately severe to severe hemophilia A from week 12 to at least 15 months. The company said the drug also performed better than the current standard treatment for the disease, which is routine infusions that replace the Factor VIII protein.
"For people living with hemophilia A, the physical and emotional impact of needing to prevent and treat bleeding episodes through frequent IV infusions or injections cannot be underestimated," said Dr. Andrew Leavitt, the lead investigator of the trial, in a statement.
Pfizer said the study is ongoing and it will present additional data at upcoming medical meetings.
If approved, Pfizer's therapy will compete with BioMarin Pharmaceutical's one-time treatment Roctavian. BioMarin's therapy has had a slow rollout since it won approval in the U.S. Last year, raising questions about how many patients would take Pfizer's drug if it enters the market.
BioMarin is reportedly considering whether to divest its hemophilia A therapy, which costs $2.9 million.
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