Abstract
Background: Health care outcomes have been increasingly assessed through health-related quality of life (HRQoL) measures. While the introduction of nitrogen-scavenging medications has improved survival in patients with urea cycle disorders (UCDs), they are often associated with side effects that may affect patient compliance and outcomes. Methods: Symptoms commonly associated with nitrogen-scavenging medications were evaluated in 100 adult and pediatric participants using a non-validated UCD-specific questionnaire. Patients or their caregivers responded to a pre-defined list of symptoms known to be associated with the use of these medications. Responses were collected at baseline (while patients were receiving sodium phenylbutyrate [NaPBA]) and during treatment with glycerol phenylbutyrate (GPB). Results: After 3. months of GPB dosing, there were significant reductions in the proportion of patients with treatment-associated symptoms (69% vs. 46%; p <0.0001), the number of symptoms per patient (2.5 vs. 1.1; p <0.0001), and frequency of the more commonly reported individual symptoms such as body odor, abdominal pain, nausea, burning sensation in mouth, vomiting, and heartburn (p <0.05). The reduction in symptoms was observed in both pediatric and adult patients. The presence or absence of symptoms or change in severity did not correlate with plasma ammonia levels or NaPBA dose. Conclusions: The reduction in symptoms following 3. months of open-label GPB dosing was similar in pediatric and adult patients and may be related to chemical structure and intrinsic characteristics of the product rather than its effect on ammonia control.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 29-34 |
| Number of pages | 6 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 116 |
| Issue number | 1-2 |
| DOIs | |
| State | Published - Sep 1 2015 |
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Keywords
- Ammonia
- Glycerol phenylbutyrate
- Health-related quality of life
- Patient-reported outcomes
- Sodium phenylbutyrate
- Treatment-related symptoms
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. / Nagamani, Sandesh C S; Diaz, George A.; Rhead, William; Berry, Susan A.; Le Mons, Cynthia; Lichter-Konecki, Uta; Bartley, James; Feigenbaum, Annette; Schulze, Andreas; Longo, Nicola; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary; Korson, Mark S.; McCandless, Shawn E.; Smith, Wendy; Vockley, Jerry; Kronn, David; Zori, Robert; Cederbaum, Stephen; Lawrence Merritt, J.; Wong, Derek; Coakley, Dion F.; Scharschmidt, Bruce F.; Dickinson, Klara; Marino, Miguel; Lee, Brendan H.; Mokhtarani, Masoud.
In: Molecular Genetics and Metabolism, Vol. 116, No. 1-2, 01.09.2015, p. 29-34.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
AU - Nagamani, Sandesh C S
AU - Diaz, George A.
AU - Rhead, William
AU - Berry, Susan A.
AU - Le Mons, Cynthia
AU - Lichter-Konecki, Uta
AU - Bartley, James
AU - Feigenbaum, Annette
AU - Schulze, Andreas
AU - Longo, Nicola
AU - Berquist, William
AU - Gallagher, Renata
AU - Bartholomew, Dennis
AU - Harding, Cary
AU - Korson, Mark S.
AU - McCandless, Shawn E.
AU - Smith, Wendy
AU - Vockley, Jerry
AU - Kronn, David
AU - Zori, Robert
AU - Cederbaum, Stephen
AU - Lawrence Merritt, J.
AU - Wong, Derek
AU - Coakley, Dion F.
AU - Scharschmidt, Bruce F.
AU - Dickinson, Klara
AU - Marino, Miguel
AU - Lee, Brendan H.
AU - Mokhtarani, Masoud
PY - 2015/9/1
Y1 - 2015/9/1
N2 - Background: Health care outcomes have been increasingly assessed through health-related quality of life (HRQoL) measures. While the introduction of nitrogen-scavenging medications has improved survival in patients with urea cycle disorders (UCDs), they are often associated with side effects that may affect patient compliance and outcomes. Methods: Symptoms commonly associated with nitrogen-scavenging medications were evaluated in 100 adult and pediatric participants using a non-validated UCD-specific questionnaire. Patients or their caregivers responded to a pre-defined list of symptoms known to be associated with the use of these medications. Responses were collected at baseline (while patients were receiving sodium phenylbutyrate [NaPBA]) and during treatment with glycerol phenylbutyrate (GPB). Results: After 3. months of GPB dosing, there were significant reductions in the proportion of patients with treatment-associated symptoms (69% vs. 46%; p <0.0001), the number of symptoms per patient (2.5 vs. 1.1; p <0.0001), and frequency of the more commonly reported individual symptoms such as body odor, abdominal pain, nausea, burning sensation in mouth, vomiting, and heartburn (p <0.05). The reduction in symptoms was observed in both pediatric and adult patients. The presence or absence of symptoms or change in severity did not correlate with plasma ammonia levels or NaPBA dose. Conclusions: The reduction in symptoms following 3. months of open-label GPB dosing was similar in pediatric and adult patients and may be related to chemical structure and intrinsic characteristics of the product rather than its effect on ammonia control.
AB - Background: Health care outcomes have been increasingly assessed through health-related quality of life (HRQoL) measures. While the introduction of nitrogen-scavenging medications has improved survival in patients with urea cycle disorders (UCDs), they are often associated with side effects that may affect patient compliance and outcomes. Methods: Symptoms commonly associated with nitrogen-scavenging medications were evaluated in 100 adult and pediatric participants using a non-validated UCD-specific questionnaire. Patients or their caregivers responded to a pre-defined list of symptoms known to be associated with the use of these medications. Responses were collected at baseline (while patients were receiving sodium phenylbutyrate [NaPBA]) and during treatment with glycerol phenylbutyrate (GPB). Results: After 3. months of GPB dosing, there were significant reductions in the proportion of patients with treatment-associated symptoms (69% vs. 46%; p <0.0001), the number of symptoms per patient (2.5 vs. 1.1; p <0.0001), and frequency of the more commonly reported individual symptoms such as body odor, abdominal pain, nausea, burning sensation in mouth, vomiting, and heartburn (p <0.05). The reduction in symptoms was observed in both pediatric and adult patients. The presence or absence of symptoms or change in severity did not correlate with plasma ammonia levels or NaPBA dose. Conclusions: The reduction in symptoms following 3. months of open-label GPB dosing was similar in pediatric and adult patients and may be related to chemical structure and intrinsic characteristics of the product rather than its effect on ammonia control.
KW - Ammonia
KW - Glycerol phenylbutyrate
KW - Health-related quality of life
KW - Patient-reported outcomes
KW - Sodium phenylbutyrate
KW - Treatment-related symptoms
UR - http://www.scopus.com/inward/record.url?scp=84940895916&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84940895916&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2015.08.002
DO - 10.1016/j.ymgme.2015.08.002
M3 - Article
C2 - 26296711
AN - SCOPUS:84940895916
VL - 116
SP - 29
EP - 34
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 1-2
ER -