Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism
<p dir="ltr">Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion, leading to severe hypoglycemia in most cases. We previously described the adjunct use of alpelisib therapy in a 3-month-old patient with CHI. We now describe our observations in 2 additional...
محفوظ في:
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| مؤلفون آخرون: | , , , |
| منشور في: |
2025
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| _version_ | 1864513534166040576 |
|---|---|
| author | Khalid Alburshad (22467244) |
| author2 | Rasha Amin (19923777) Hajar Dauleh (18002500) Marwa Ibrahim (22467247) Khalid Hussain (110443) |
| author2_role | author author author author |
| author_facet | Khalid Alburshad (22467244) Rasha Amin (19923777) Hajar Dauleh (18002500) Marwa Ibrahim (22467247) Khalid Hussain (110443) |
| author_role | author |
| dc.creator.none.fl_str_mv | Khalid Alburshad (22467244) Rasha Amin (19923777) Hajar Dauleh (18002500) Marwa Ibrahim (22467247) Khalid Hussain (110443) |
| dc.date.none.fl_str_mv | 2025-06-09T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1210/jcemcr/luaf099 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Alpelisib_Therapy_in_2_Patients_With_Congenital_Hyperinsulinism/30405940 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Medical biochemistry and metabolomics Paediatrics Pharmacology and pharmaceutical sciences congenital hyperinsulinism alpelisib hypoglycemia Usher syndrome KCNJ11 pathological variant |
| dc.title.none.fl_str_mv | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion, leading to severe hypoglycemia in most cases. We previously described the adjunct use of alpelisib therapy in a 3-month-old patient with CHI. We now describe our observations in 2 additional patients with severe CHI treated with alpelisib therapy, resulting in discontinuation of all existing treatments and normalization of feeding. Two children (aged 3 and 4 years) with CHI (homozygous <i>ABCC8 </i>and<i> KCNJ11</i> pathological variants) who were unresponsive to conventional therapies were treated with alpelisib. Treatment was initiated at 12.5 mg daily, with gradual dose adjustments based on clinical responses. Outcome measures included blood glucose variability, frequency of hypoglycemic episodes, need for supplemental feeding, and treatment safety. In both cases, alpelisib significantly improved glucose levels, reducing the frequency of hypoglycemic episodes. This allowed for the tapering and discontinuation of other medications (diazoxide and octreotide) and facilitated a transition to bolus gastrostomy-tube/oral feeding. No significant adverse effects were reported. Alpelisib shows promise as both an adjunctive and primary therapy for CHI, improving glucose levels and reducing dependence on continuous feeding and other medications. Randomized controlled trials are needed to assess its long-term safety and efficacy for CHI.</p><h2>Other Information</h2><p dir="ltr">Published in: JCEM Case Reports<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1210/jcemcr/luaf099" target="_blank">https://dx.doi.org/10.1210/jcemcr/luaf099</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_b73c4dffb74b5b8060a9c1224cd9a484 |
| identifier_str_mv | 10.1210/jcemcr/luaf099 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/30405940 |
| publishDate | 2025 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Alpelisib Therapy in 2 Patients With Congenital HyperinsulinismKhalid Alburshad (22467244)Rasha Amin (19923777)Hajar Dauleh (18002500)Marwa Ibrahim (22467247)Khalid Hussain (110443)Biomedical and clinical sciencesMedical biochemistry and metabolomicsPaediatricsPharmacology and pharmaceutical sciencescongenital hyperinsulinismalpelisibhypoglycemiaUsher syndromeKCNJ11 pathological variant<p dir="ltr">Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion, leading to severe hypoglycemia in most cases. We previously described the adjunct use of alpelisib therapy in a 3-month-old patient with CHI. We now describe our observations in 2 additional patients with severe CHI treated with alpelisib therapy, resulting in discontinuation of all existing treatments and normalization of feeding. Two children (aged 3 and 4 years) with CHI (homozygous <i>ABCC8 </i>and<i> KCNJ11</i> pathological variants) who were unresponsive to conventional therapies were treated with alpelisib. Treatment was initiated at 12.5 mg daily, with gradual dose adjustments based on clinical responses. Outcome measures included blood glucose variability, frequency of hypoglycemic episodes, need for supplemental feeding, and treatment safety. In both cases, alpelisib significantly improved glucose levels, reducing the frequency of hypoglycemic episodes. This allowed for the tapering and discontinuation of other medications (diazoxide and octreotide) and facilitated a transition to bolus gastrostomy-tube/oral feeding. No significant adverse effects were reported. Alpelisib shows promise as both an adjunctive and primary therapy for CHI, improving glucose levels and reducing dependence on continuous feeding and other medications. Randomized controlled trials are needed to assess its long-term safety and efficacy for CHI.</p><h2>Other Information</h2><p dir="ltr">Published in: JCEM Case Reports<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1210/jcemcr/luaf099" target="_blank">https://dx.doi.org/10.1210/jcemcr/luaf099</a></p>2025-06-09T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1210/jcemcr/luaf099https://figshare.com/articles/journal_contribution/Alpelisib_Therapy_in_2_Patients_With_Congenital_Hyperinsulinism/30405940CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/304059402025-06-09T03:00:00Z |
| spellingShingle | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism Khalid Alburshad (22467244) Biomedical and clinical sciences Medical biochemistry and metabolomics Paediatrics Pharmacology and pharmaceutical sciences congenital hyperinsulinism alpelisib hypoglycemia Usher syndrome KCNJ11 pathological variant |
| status_str | publishedVersion |
| title | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| title_full | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| title_fullStr | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| title_full_unstemmed | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| title_short | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| title_sort | Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism |
| topic | Biomedical and clinical sciences Medical biochemistry and metabolomics Paediatrics Pharmacology and pharmaceutical sciences congenital hyperinsulinism alpelisib hypoglycemia Usher syndrome KCNJ11 pathological variant |