Ignite Creation Date:
2024-10-26 @ 3:41 PM
Last Modification Date:
2024-10-26 @ 3:41 PM
Study NCT ID:
NCT06622577
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-07-26
Brief Title:
The Effect of Dietary Management and Cysteine Supplementation on Growth Parameters and Biochemical Control for Pediatric Qatari Patients Affected with Classical B6 Non-responsive Homocystinuria
Sponsor:
None
Organization:
None
Study Overview
Official Title:
The Effect of Dietary Management and Cysteine Supplementation on Growth Parameters and Biochemical Control for Pediatric Qatari Patients Affected with Classical B6 Non-responsive Homocystinuria
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Classical homocystinuria HCU is an autosomal recessive disorder caused by the deficiency of an enzyme cystathionine β-synthase CβS that affects the catabolic pathway of the amino acid methionine Met which leads to an accumulation of high levels of methionine and Homocysteine causing complications in the multi system Therefore a strict dietary management is crucial to maintain good biochemical control growth parameters and avoid complications The main objective would be to analyze the impact of the Met restricted diet on growth parameters biochemical markers and long-term complications in patients up to 18 years In addition the efficacy of dietary management with additional cysteine Cys supplementation for the patients up to 18 years would also be examined
The participants of the study would be recruited from the metabolic and genetics clinic in Hamad General Hospital HGH Qatar All Qatari participants with confirmed diagnosis of HCU amplt18 years of age will be included in the study A mixed method study design would be used which include a cross sectional study design to assess the impact of methionine restricted diet on outcome variables and a single arm interventional study to analyze the effect of additional cysteine supplementation in patients from birth to 18 years For the retrospective study all the required data would be retrieved from electronic record from the Cerner of HMC and would be stored in a local drive with password protection Further all the eligible participants would be prospectively followed to supplement additional cysteine for the period of 6 months
The collected data will be statistically analyzed using the SPSS windows version 220 software The study would improve better understanding of dietary management through the identified outcomes The outcome of Cys supplementation will improve the protein tolerance biochemical parameters growth parameters and may standardize the Cys supplementation
The participants of the study would be recruited from the metabolic and genetics clinic in Hamad General Hospital HGH Qatar All Qatari participants with confirmed diagnosis of HCU amplt18 years of age will be included in the study A mixed method study design would be used which include a cross sectional study design to assess the impact of methionine restricted diet on outcome variables and a single arm interventional study to analyze the effect of additional cysteine supplementation in patients from birth to 18 years For the retrospective study all the required data would be retrieved from electronic record from the Cerner of HMC and would be stored in a local drive with password protection Further all the eligible participants would be prospectively followed to supplement additional cysteine for the period of 6 months
The collected data will be statistically analyzed using the SPSS windows version 220 software The study would improve better understanding of dietary management through the identified outcomes The outcome of Cys supplementation will improve the protein tolerance biochemical parameters growth parameters and may standardize the Cys supplementation
Detailed Description:
This single-arm interventional study aims to evaluate the efficacy of dietary management combined with additional cysteine Cys supplementation in patients with Classical Homocystinuria HCU The study will assess the impact on biochemical markers and growth parameters over a six-month period The study will include pediatric patients from birth to 18 years old residing in Qatar a region with the highest global prevalence of HCU
Classical HCU is an autosomal recessive disorder resulting from a deficiency in cystathionine β-synthase CβS This enzymatic deficiency disrupts the metabolism of methionine Met and leads to elevated levels of homocysteine Hcy while cysteine Cys levels remain low Untreated HCU can cause significant complications including ectopic lentis elongated bones intellectual disability and thromboembolism Management primarily involves dietary restrictions to reduce Met intake and supplementation of Cys along with other treatments
More research is needed to determine the appropriate cysteine levels in treated patients and whether additional L-cystine supplementation can improve outcomes in those with Classical homocystinuria
In CBS deficiency the formation of cysteine from methionine is disrupted making cysteine a 34conditionally essential34 amino acid Low cysteine concentrations may contribute to the disease39s pathogenesis
The Relationship Between Cysteine and Homocysteine Hcy is both cysteine and homocysteine Hcy contain thiol groups and they exist in different reduced and oxidized forms When Hcy levels are very high they reduce the concentration of plasma cysteine likely due to the limited thiol-binding capacity of plasma proteins Improving homocysteine control by increasing cysteine levels highlights the importance of focusing on cysteine supplementation Case reports even suggest that cysteine deficiency may lead to poor weight gain and growth even with adequate energy intake
Cysteine is added to most methionine-free L-amino acid supplements but the quantities may not always be sufficient Administering cysteine can be challenging due to its poor solubility and unpleasant taste
This provides insight into the complexities of managing CBS deficiency and the potential need for individualized cysteine supplementation
Despite the known benefits of dietary management there is limited research on the impact of additional Cysteine supplementation This study seeks to explore this aspect more comprehensively especially considering varying practices and guidelines globally
Classical HCU is an autosomal recessive disorder resulting from a deficiency in cystathionine β-synthase CβS This enzymatic deficiency disrupts the metabolism of methionine Met and leads to elevated levels of homocysteine Hcy while cysteine Cys levels remain low Untreated HCU can cause significant complications including ectopic lentis elongated bones intellectual disability and thromboembolism Management primarily involves dietary restrictions to reduce Met intake and supplementation of Cys along with other treatments
More research is needed to determine the appropriate cysteine levels in treated patients and whether additional L-cystine supplementation can improve outcomes in those with Classical homocystinuria
In CBS deficiency the formation of cysteine from methionine is disrupted making cysteine a 34conditionally essential34 amino acid Low cysteine concentrations may contribute to the disease39s pathogenesis
The Relationship Between Cysteine and Homocysteine Hcy is both cysteine and homocysteine Hcy contain thiol groups and they exist in different reduced and oxidized forms When Hcy levels are very high they reduce the concentration of plasma cysteine likely due to the limited thiol-binding capacity of plasma proteins Improving homocysteine control by increasing cysteine levels highlights the importance of focusing on cysteine supplementation Case reports even suggest that cysteine deficiency may lead to poor weight gain and growth even with adequate energy intake
Cysteine is added to most methionine-free L-amino acid supplements but the quantities may not always be sufficient Administering cysteine can be challenging due to its poor solubility and unpleasant taste
This provides insight into the complexities of managing CBS deficiency and the potential need for individualized cysteine supplementation
Despite the known benefits of dietary management there is limited research on the impact of additional Cysteine supplementation This study seeks to explore this aspect more comprehensively especially considering varying practices and guidelines globally
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None