Online Support

The following independent organizations are dedicated to supporting patients and families living with a urea cycle disorder (UCD). If your patient has a UCD, you are familiar with their challenges in managing it day-to-day. Here are community organizations that provide education and support for people with a UCD and other rare conditions:

Independent Organizations for Those Living With UCD
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NUCDF drives innovative research to improve quality of life and leads the search for a cure. A lifeline to UCD patients, families, and medical professionals worldwide seeking information, support, and hope.

http://www.nucdf.org/

CFUCDF has a vision to connect UCD families together, providing support and critical tools to enhance quality of life.

https://ucdfamily.org/

Independent Organizations for Those Living With a Rare Disease
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CCI promotes well-being and decreases isolation for those impacted by chronic illness through support and education.

https://www.thecenterforchronicillness.org/

The mission of Remember the Girls is to raise awareness of the many issues facing female carriers of X-linked genetic disorders; to provide a forum for X-linked females to share their stories, ask questions, provide and receive emotional support; and to advocate for increased attention of the medical community to the physical and emotional issues of females who carry X-linked disorders.

https://www.rememberthegirls.org/

Global Genes is a nonprofit, advocacy organization for patients and families fighting rare and genetic diseases, including cystinosis. Its mission is to eliminate the challenges of rare disease.

https://globalgenes.org/

NORD is a patient advocacy organization dedicated to people with rare diseases and the groups that help them. NORD provides patients and families with advocacy information, assistance programs, and connections to patient organizations.

https://rarediseases.org/

The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy.

https://everylifefoundation.org/

ANGEL AID connects rare communities to teach the tools of self-care and how to be listened to without judgment.

https://www.angelaidcares.org/

Our Odyssey’s mission is connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.

https://ourodyssey.org/

Next Step is a nonprofit that shatters limitations and elevates aspirations of young people with serious illness during their transition to adulthood through campferences, mentorship, music therapy, and other tailored programming.

https://www.nextstepnet.org/

Horizon By Your Side is here to help your patient understand their options for paying for treatment

INDICATION and IMPORTANT SAFETY INFORMATION

INDICATION

BUPHENYL (sodium phenylbutyrate) Tablets for oral administration and BUPHENYL (sodium phenylbutyrate) Powder for oral, nasogastric, or gastrostomy tube administration are indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders (UCDs) involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS).

BUPHENYL is indicated in all patients with neonatal-onset deficiency (complete enzymatic deficiency, presenting within the first 28 days of life). It is also indicated in patients with late-onset disease (partial enzymatic deficiency, presenting after the first month of life) who have a history of hyperammonemic encephalopathy.

BUPHENYL must be used with dietary protein restriction and, in some cases, essential amino acid supplementation.

Any episode of acute hyperammonemia should be treated as a life-threatening emergency.

IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • Acute hyperammonemia: BUPHENYL should not be used to manage acute hyperammonemia, which is a medical emergency.

WARNINGS AND PRECAUTIONS

BUPHENYL should not be administered to patients with known hypersensitivity to sodium phenylbutyrate or any component of this preparation.

  • Use caution with administering BUPHENYL to patients with:
    • Congestive heart failure or severe renal insufficiency, and in clinical states in which there is sodium retention with edema.
    • Hepatic or renal insufficiency or inborn errors of beta oxidation.
  • Probenecid may affect renal excretion of the conjugated product of BUPHENYL as well as its metabolite.
  • Use of corticosteroids may cause the breakdown of body protein and increase plasma ammonia levels.
  • There have been published reports of hyperammonemia being induced by haloperidol and by valproic acid.

ADVERSE REACTIONS

  • The most common adverse reactions (≥3%) reported in BUPHENYL clinical trials were decreased appetite, body odor, bad taste or taste aversion.
  • In female patients, amenorrhea/menstrual dysfunction (irregular menstrual cycles) occurred in 23% of the menstruating patients.
  • Neurotoxicity was reported in cancer patients receiving intravenous phenylacetate. Manifestations were predominately somnolence, fatigue, and lightheadedness; with less frequent headache, dysgeusia, hypoacusis, disorientation, impaired memory, and exacerbation of a pre-existing neuropathy.
  • Laboratory adverse events occurring in >2% of UCD patients by body system were:
    • Metabolic: acidosis, alkalosis, hyperchloremia, and hypophosphatemia
    • Nutritional: hypoalbuminemia and decreased total protein
    • Hepatic: increased alkaline phosphatase and increased liver transaminases
    • Hematologic: anemia, leukopenia, leukocytosis, and thrombocytopenia

USE IN SPECIFIC POPULATIONS

  • Pregnancy: BUPHENYL should be used with caution in patients who are pregnant or planning to become pregnant. Animal reproduction studies have not been conducted with BUPHENYL. It is not known whether BUPHENYL can cause fetal harm when administered to a pregnant woman or can affect reproduction capacity.
  • Lactation: breastfeeding is not recommended during treatment with BUPHENYL. There are no data on the presence of BUPHENYL in human milk.

Please see Full Prescribing Information.

INDICATION and IMPORTANT SAFETY INFORMATION

INDICATION

BUPHENYL (sodium phenylbutyrate) Tablets for oral administration and BUPHENYL (sodium phenylbutyrate) Powder for oral, nasogastric, or gastrostomy tube administration are indicated as adjunctive therapy in the chronic management of patients with urea cycle disorders (UCDs) involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS).

BUPHENYL is indicated in all patients with neonatal-onset deficiency (complete enzymatic deficiency, presenting within the first 28 days of life). It is also indicated in patients with late-onset disease (partial enzymatic deficiency, presenting after the first month of life) who have a history of hyperammonemic encephalopathy.

BUPHENYL must be used with dietary protein restriction and, in some cases, essential amino acid supplementation.

Any episode of acute hyperammonemia should be treated as a life-threatening emergency.

IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • Acute hyperammonemia: BUPHENYL should not be used to manage acute hyperammonemia, which is a medical emergency.

WARNINGS AND PRECAUTIONS

BUPHENYL should not be administered to patients with known hypersensitivity to sodium phenylbutyrate or any component of this preparation.

  • Use caution with administering BUPHENYL to patients with:
    • Congestive heart failure or severe renal insufficiency, and in clinical states in which there is sodium retention with edema.
    • Hepatic or renal insufficiency or inborn errors of beta oxidation.
  • Probenecid may affect renal excretion of the conjugated product of BUPHENYL as well as its metabolite.
  • Use of corticosteroids may cause the breakdown of body protein and increase plasma ammonia levels.
  • There have been published reports of hyperammonemia being induced by haloperidol and by valproic acid.

ADVERSE REACTIONS

  • The most common adverse reactions (≥3%) reported in BUPHENYL clinical trials were decreased appetite, body odor, bad taste or taste aversion.
  • In female patients, amenorrhea/menstrual dysfunction (irregular menstrual cycles) occurred in 23% of the menstruating patients.
  • Neurotoxicity was reported in cancer patients receiving intravenous phenylacetate. Manifestations were predominately somnolence, fatigue, and lightheadedness; with less frequent headache, dysgeusia, hypoacusis, disorientation, impaired memory, and exacerbation of a pre-existing neuropathy.
  • Laboratory adverse events occurring in >2% of UCD patients by body system were:
    • Metabolic: acidosis, alkalosis, hyperchloremia, and hypophosphatemia
    • Nutritional: hypoalbuminemia and decreased total protein
    • Hepatic: increased alkaline phosphatase and increased liver transaminases
    • Hematologic: anemia, leukopenia, leukocytosis, and thrombocytopenia

USE IN SPECIFIC POPULATIONS

  • Pregnancy: BUPHENYL should be used with caution in patients who are pregnant or planning to become pregnant. Animal reproduction studies have not been conducted with BUPHENYL. It is not known whether BUPHENYL can cause fetal harm when administered to a pregnant woman or can affect reproduction capacity.
  • Lactation: breastfeeding is not recommended during treatment with BUPHENYL. There are no data on the presence of BUPHENYL in human milk.

Please see Full Prescribing Information.