Idiopathic Infantile Hypercalcemia - Mild FormPhase 1NCT03384121
The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH
A Phase 1 study testing Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension in people with Idiopathic Infantile Hypercalcemia - Mild Form, run by The Hospital for Sick Children at 1 site in Canada.
Trial summary
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of… Read more about this study
- Who is it for?
- Ages 6 months to 17 years
- Conditions the study is for
- Idiopathic Infantile Hypercalcemia - Mild Form
- What is being tested?
- Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteCanada
- Study dates
- 22 Feb 2018to 31 Dec 2021
- Phase
- Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- all patients between 6 months- 17 years of age with the clinical phenotype of idiopathic infantile hypercalcemia
- Biochemical evidence of this disorder: Serum calcium>upper limit of the reference age for range; high, 1,25 (OH)D; reduced PTH, reduced 24,25(OH)2D, and suppresses 24,1,25 (OH)2D, normal serum creatinine, AST, and ALT with or without
- biallelic inactivating mutations of CYP24A1
- mutations in newly published genes which are shown during the course of the study to cause an inappropriate increase in 1,25 (OH)2D
Who cannot join
- Allergy to rifampin or related medications
- Pregnancy or breastfeeding
- Significant cardiac, hepatic, or endocrine comorbidities
- Taking any medications/foods known to interact with CYP3A4 or 1,25 (OH)D
- Parents or guardians or subjects who in the opinion of the Investigator may be non compliant with study schedules or procedures
- Other comorbidities considered unsuitable by the investigator, including TB
Trial locations and contacts
1 site in 1 country.
Canada1 site, 1 recruiting
- Recruiting
The Hospital for Sick Children
Toronto, Ontario, M5G 1X8
Etienne Sochett, MD, 416-813-6218, etienne.sochett@sickkids.ca
Yesmino Elia, Msc., 416-813-7654 ext. 1518, yesmino.elia@sickkids.ca
About this study
Official title: Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important enzyme that provides an alternate catabolic pathway for inactivation of vitamin D metabolites. In this study, investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day.
Read the detailed description
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism characterized by severe hypercalcemia and/or hypercalciuria, suppressed serum levels of parathyroid hormone (PTH), elevated levels of the active vitamin D metabolite, 1,25(OH)2D, and nephrocalcinosis. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.
Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important P450 microsomal enzyme that is expressed in the liver and intestine. When CYP3A4 is induced, the increased enzyme activity provides an alternative catabolic pathway for inactivation of vitamin D metabolites. The purpose of this study is to obtain results and support for an open label, escalating dose study to assess the effect, safety, and tolerability of once daily oral rifampin for two months in participants with IIH due to inactivating mutations in CYP24A1.
In this study, Investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day. In addition to determining if this treatment is efficacious in reducing elevated serum and urinary calcium in patients, it will be determined if there is a dose effect of rifampin. As well, detailed measurements of vitamin D metabolites will determine if rifampin reduces hypercalcemia through increased CYP3A4 activity.
- Being tested
- Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
- Keywords
- CYP24A1, Nephrocalcinosis, Hypercalcemia, Hypercalcuria
- Medical subject headings
- Nephrocalcinosis, Hypercalcemia, Hypercalciuria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspensionDrug
Also called Rifadin, Rofact, Rifampicin
Starting Dose (V2): 5 mg/kg/day (max 600mg/day) orally for 2 months followed by a 2 month washout period V4: After washout period, only Non-responders will escalate dose to 10 mg/kg/day (max 600mg/day) orally for 2 months
| Study group | Role | What they receive |
|---|---|---|
| Rifampin | Experimental | All subjects Receives: Drug: Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Serum Calcium
Measured at baseline and every 2 months (8 weeks)
Measured: 40 weeks
Change in Serum Parathyroid Hormone
measured at baseline and every 2 months ( 8 weeks)
Measured: 40 weeks
Change in Urinary calcium excretion
Measured at baseline and every 2 months( 8 weeks)
Measured: 40 weeks
Secondary outcomes (1)
Nephrocalcinosis
Renal ultrasound performed before and after treatment
Measured: 40 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Dec 2017
- Study start22 Feb 2018
- Primary completion31 Dec 2021 (estimated)
- Study completion31 Dec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (35)Papers the sponsor has linked to this study.
- Other trials for Idiopathic Infantile Hypercalcemia - Mild FormStudies of the same condition, open and under way.
- More trials run by The Hospital for Sick ChildrenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This is a phase 1 pilot study whereby all participants start the study at a starting dose 5mg/kg/day (at study visit 2) for two months, and those that do not respond to 5mg/kg/day, otherwise known as non-responders, will receive a higher dose of 10 mg/kg/day (at study visit 4) for another two months. Recruited patients will be followed prospectively for a total of 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin of 5mg/kg/day with a maximum dose of 600mg/day followed by a 2 month washout phase. The efficacy of the starting dose of rifampin will be determined prior to proceeding only in non-responders to the higher dose of 10 mg/kg/day with a maximum dose of 600 mg/day.
- Masking
- None (open label)
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Hospital for Sick Children
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital of Philadelphia, Canadian Institutes of Health Research (CIHR), Cures Within Reach
- Responsible party
- Principal investigator, Etienne Sochett, The Hospital for Sick Children
- Investigators
- Etienne Sochett, MD, Principal investigator, The Hospital for Sick Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03384121
- Sponsor's protocol ID
- 1000057141
- Status last verified
- Aug 2021
- First submitted
- 13 Dec 2017
- Last updated
- 31 Aug 2021
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
LIGHTWOOD R, STAPLETON T. Idiopathic hypercalcaemia in infants. Lancet. 1953 Aug 1;265(6779):255-6. doi: 10.1016/s0140-6736(53)90187-1. No abstract available.
PubMed 13070618CREERY RD, NEILL DW. Idiopathic hypercalcaemia in infants with failure to thrive. Lancet. 1954 Jul 17;267(6829):110-4. doi: 10.1016/s0140-6736(54)90094-x. No abstract available.
PubMed 13175473Masuda S, Byford V, Arabian A, Sakai Y, Demay MB, St-Arnaud R, Jones G. Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse. Endocrinology. 2005 Feb;146(2):825-34. doi: 10.1210/en.2004-1116. Epub 2004 Oct 21.
PubMed 15498883Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15.
PubMed 21675912Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74. doi: 10.1210/jc.2011-1972. Epub 2011 Nov 23.
PubMed 22112808KENNY FM, ACETO T Jr, PURISCH M, HARRISON HE, HARRISON HC, BLIZZARD RM. Metabolic studies in a patient with idiopathic hypercalcemia of infancy. J Pediatr. 1963 Apr;62:531-7. doi: 10.1016/s0022-3476(63)80010-4. No abstract available.
PubMed 14031980Pronicka E, Kulczycka H, Rowinska E, Konopinska A, Kansy J, Lorenc R. [Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants]. Pediatr Pol. 1985 Apr;60(4):288-94. No abstract available. Polish.
PubMed 2995910SMITH DW, BLIZZARD RM, HARRISON HE. Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. Pediatrics. 1959 Aug;24(2):258-69. No abstract available.
PubMed 13674824Wolf P, Muller-Sacherer T, Baumgartner-Parzer S, Winhofer Y, Kroo J, Gessl A, Luger A, Krebs M. A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. Endocr Pract. 2014 May;20(5):e91-5. doi: 10.4158/EP13479.CR.
PubMed 24518185Tray KA, Laut J, Saidi A. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review. Conn Med. 2015 Nov-Dec;79(10):593-7.
PubMed 26731879Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4.
PubMed 23293122Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. Bone. 2015 Dec;81:89-96. doi: 10.1016/j.bone.2015.06.018. Epub 2015 Jun 25.
PubMed 26117226Prosser DE, Jones G. Enzymes involved in the activation and inactivation of vitamin D. Trends Biochem Sci. 2004 Dec;29(12):664-73. doi: 10.1016/j.tibs.2004.10.005.
PubMed 15544953Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW. Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5. doi: 10.1073/pnas.0402490101. Epub 2004 May 5.
PubMed 15128933Bergwitz C, Juppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med. 2010;61:91-104. doi: 10.1146/annurev.med.051308.111339.
PubMed 20059333
Study at a glance
From the registry record, last updated by the sponsor on 31 Aug 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia
- ClinicalTrials.gov ID
- NCT03384121
- Acronym / sponsor ID
- 1000057141
- Keywords
- CYP24A1, Nephrocalcinosis, Hypercalcemia, Hypercalcuria
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- The Hospital for Sick ChildrenUniversity, hospital or other
- Collaborators
- Children's Hospital of Philadelphia, Canadian Institutes of Health Research (CIHR), Cures Within Reach
- Study start
- 22 Feb 2018 (actual)
- Primary completion
- 31 Dec 2021 (estimated)
- Study completion
- 31 Dec 2021 (estimated)
- First posted
- 27 Dec 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important enzyme that provides an alternate catabolic pathway for inactivation of vitamin D metabolites. In this study, investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day.
Detailed description
Idiopathic infantile hypercalcemia(IIH) is a rare,genetic disorder of mineral metabolism characterized by severe hypercalcemia and/or hypercalciuria, suppressed serum levels of parathyroid hormone (PTH), elevated levels of the active vitamin D metabolite, 1,25(OH)2D, and nephrocalcinosis. Biallelic loss of functions mutations of CYP24A1, the gene encoding the 24-hydroxylase enzyme that represents the principal pathway for inactivation of vitamin D metabolites, cause the most common and severe form of IIH.
Investigators have preliminary data supporting a novel therapeutic approach to suggest rifampin as an investigational drug to induce over-expression of CYP3A4, an important P450 microsomal enzyme that is expressed in the liver and intestine. When CYP3A4 is induced, the increased enzyme activity provides an alternative catabolic pathway for inactivation of vitamin D metabolites. The purpose of this study is to obtain results and support for an open label, escalating dose study to assess the effect, safety, and tolerability of once daily oral rifampin for two months in participants with IIH due to inactivating mutations in CYP24A1.
In this study, Investigators will recruit 5 patients with biallelic inactivating mutations of CYP24A1. Participants will be followed prospectively for a total 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin, followed by 2 month washout phase. Efficacy of the starting dose of rifampin will be determined prior to proceeding only in non responders to the escalation dose of rifampin 10mg/kg/day. In addition to determining if this treatment is efficacious in reducing elevated serum and urinary calcium in patients, it will be determined if there is a dose effect of rifampin. As well, detailed measurements of vitamin D metabolites will determine if rifampin reduces hypercalcemia through increased CYP3A4 activity.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is a phase 1 pilot study whereby all participants start the study at a starting dose 5mg/kg/day (at study visit 2) for two months, and those that do not respond to 5mg/kg/day, otherwise known as non-responders, will receive a higher dose of 10 mg/kg/day (at study visit 4) for another two months. Recruited patients will be followed prospectively for a total of 6-11 months. This will include 2 months of observation, 2 months of receiving the starting dose of rifampin of 5mg/kg/day with a maximum dose of 600mg/day followed by a 2 month washout phase. The efficacy of the starting dose of rifampin will be determined prior to proceeding only in non-responders to the higher dose of 10 mg/kg/day with a maximum dose of 600 mg/day.
| Arm | Type | Receives |
|---|---|---|
| Rifampin | Experimental | Drug: Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspensionAll subjects |
Who may qualify
- Ages
- 6 months to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- all patients between 6 months- 17 years of age with the clinical phenotype of idiopathic infantile hypercalcemia
- Biochemical evidence of this disorder: Serum calcium>upper limit of the reference age for range; high, 1,25 (OH)D; reduced PTH, reduced 24,25(OH)2D, and suppresses 24,1,25 (OH)2D, normal serum creatinine, AST, and ALT with or without
- biallelic inactivating mutations of CYP24A1
- mutations in newly published genes which are shown during the course of the study to cause an inappropriate increase in 1,25 (OH)2D
Key exclusion criteria (6 listed)
- Allergy to rifampin or related medications
- Pregnancy or breastfeeding
- Significant cardiac, hepatic, or endocrine comorbidities
- Taking any medications/foods known to interact with CYP3A4 or 1,25 (OH)D
- Parents or guardians or subjects who in the opinion of the Investigator may be non compliant with study schedules or procedures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspensionAlso: Rifadin, Rofact, RifampicinStarting Dose (V2): 5 mg/kg/day (max 600mg/day) orally for 2 months followed by a 2 month washout period V4: After washout period, only Non-responders will escalate dose to 10 mg/kg/day (max 600mg/day) orally for 2 months | Drug | Rifampin |
Primary outcome
Change in Serum Calcium
Time frame: 40 weeks
Measured at baseline and every 2 months (8 weeks)
Change in Serum Parathyroid Hormone
Time frame: 40 weeks
measured at baseline and every 2 months ( 8 weeks)
Change in Urinary calcium excretion
Time frame: 40 weeks
Measured at baseline and every 2 months( 8 weeks)
1 secondary outcome
Nephrocalcinosis
Time frame: 40 weeks
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Aug 2021.
- Background: PubMed 13070618LIGHTWOOD R, STAPLETON T. Idiopathic hypercalcaemia in infants. Lancet. 1953 Aug 1;265(6779):255-6. doi: 10.1016/s0140-6736(53)90187-1. No abstract available.
- Background: PubMed 13175473CREERY RD, NEILL DW. Idiopathic hypercalcaemia in infants with failure to thrive. Lancet. 1954 Jul 17;267(6829):110-4. doi: 10.1016/s0140-6736(54)90094-x. No abstract available.
- Background: PubMed 15498883Masuda S, Byford V, Arabian A, Sakai Y, Demay MB, St-Arnaud R, Jones G. Altered pharmacokinetics of 1alpha,25-dihydroxyvitamin D3 and 25-hydroxyvitamin D3 in the blood and tissues of the 25-hydroxyvitamin D-24-hydroxylase (Cyp24a1) null mouse. Endocrinology. 2005 Feb;146(2):825-34. doi: 10.1210/en.2004-1116. Epub 2004 Oct 21.
- Background: PubMed 21675912Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15.
- Background: PubMed 22112808Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74. doi: 10.1210/jc.2011-1972. Epub 2011 Nov 23.
- Background: PubMed 14031980KENNY FM, ACETO T Jr, PURISCH M, HARRISON HE, HARRISON HC, BLIZZARD RM. Metabolic studies in a patient with idiopathic hypercalcemia of infancy. J Pediatr. 1963 Apr;62:531-7. doi: 10.1016/s0022-3476(63)80010-4. No abstract available.
- Background: PubMed 2995910Pronicka E, Kulczycka H, Rowinska E, Konopinska A, Kansy J, Lorenc R. [Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants]. Pediatr Pol. 1985 Apr;60(4):288-94. No abstract available. Polish.
- Background: PubMed 13674824SMITH DW, BLIZZARD RM, HARRISON HE. Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum. Pediatrics. 1959 Aug;24(2):258-69. No abstract available.
- Background: PubMed 24518185Wolf P, Muller-Sacherer T, Baumgartner-Parzer S, Winhofer Y, Kroo J, Gessl A, Luger A, Krebs M. A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene. Endocr Pract. 2014 May;20(5):e91-5. doi: 10.4158/EP13479.CR.
- Background: PubMed 26731879Tray KA, Laut J, Saidi A. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review. Conn Med. 2015 Nov-Dec;79(10):593-7.
- Background: PubMed 23293122Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4.
- Background: PubMed 26117226Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. Bone. 2015 Dec;81:89-96. doi: 10.1016/j.bone.2015.06.018. Epub 2015 Jun 25.
- Individual participant dataSharing planned: Undecided
Related trials for Idiopathic Infantile Hypercalcemia - Mild Form
RecruitingPhase 2
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Etienne Sochett, MD principal investigator
The Hospital for Sick Children
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension in people with Idiopathic Infantile Hypercalcemia - Mild Form, run by The Hospital for Sick Children at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 31 Aug 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yesmino Elia, MSc (416-813-7654 ext. 201518, yesmino.elia@sickkids.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Serum Calcium (time frame: 40 weeks). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03384121, which also lists 35 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 31 Aug 2021.