Neonatal Salt LossNCT07473804
Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
An observational study of Neonatal Salt Loss and Congenital Adrenal Hyperplasia (CAH), run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
Trial summary
Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening. This study examines how often these conditions occur and describes their main clinical, genetic, and treatment features. Read more about this study
- Who is it for?
- Ages 1 year to 35 years
- Conditions the study is for
- Neonatal Salt Loss, Congenital Adrenal Hyperplasia (CAH)
- How many people
- 25 participants
- Where
- 1 siteItaly
- Study dates
- 14 Apr 2025to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 year to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: All patients of both sexes born between January 1989 and December 2023 who presented with salt-loss syndrome within the first two months of life due to an endocrine cause other than 21-hydroxylase-deficient CAH, and who were evaluated at the Pediatric Unit, Pediatric Endocrinology and Metabolic Diseases Program of the IRCCS AOUBO.
Who may be able to join
- Patients with a diagnosis of endocrine-related salt loss, defined by laboratory findings of hyponatremia (serum sodium <130 mEq/L)
- Age at onset of salt loss between 0 and 60 days of life
- Patients born between January 1, 1989 and December 31, 2023 and managed at the Experimental Center
- Obtained Informed consent
Who cannot join
- Diagnosis of 21OH ISC
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, 40138
Federico Baronio, 00390512144816, federico.baronio@aosp.bo.it
About this study
Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening. This study examines how often these conditions occur and describes their main clinical, genetic, and treatment features.
Read the detailed description
Salt loss (SL) is a major cause of neonatal hospitalization and can be life-threatening if not promptly treated. It typically presents with hyponatremia (<130 mEq/L), often accompanied by hyperkalemia, hypochloremia, and metabolic acidosis. Clinical signs are nonspecific-including vomiting, irritability, hypotonia, and, in severe cases, seizures. Newborns are particularly vulnerable to electrolyte disturbances due to reduced glomerular filtration rate, immature distal nephrons, and transient aldosterone resistance.
While infectious gastroenteritis is the most common cause of neonatal SL, several endocrine disorders may present with the same clinical picture. The leading endocrine cause is primary adrenal insufficiency due to 21-hydroxylase deficiency, but other rare genetic conditions must be considered. These include aldosterone synthase deficiency, X-linked adrenal hypoplasia congenita (DAX-1/NR0B1 mutations), and types of pseudohypoaldosteronism, each characterized by impaired aldosterone production or action and early-life salt wasting.
Despite their heterogeneity, treatment generally relies on salt replacement, with mineralocorticoid and/or glucocorticoid therapy required in selected conditions. Only limited epidemiologic data exist; an Italian study (2006-2015) showed that 21-hydroxylase deficiency accounted for 37% of endocrine SL cases, while other congenital adrenal disorders contributed to 25%.
Neonatal screening programs detect 21-hydroxylase deficiency early, but other endocrine causes of SL remain unscreened and must be considered in differential diagnosis. This study aims to quantify the frequency of non-21-hydroxylase endocrine causes of neonatal SL in patients diagnosed at our center, describe their clinical, genetic, and laboratory features, review treatment strategies and outcomes, and characterize each disorder individually.
- Medical subject headings
- Adrenal Hyperplasia, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH.
Percentage of different endocrine causes of salt loss (%)
Measured: at baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Mar 2026
- Study start14 Apr 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neonatal Salt LossStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Federico Baronio, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07473804
- Sponsor's protocol ID
- SW2024
- Status last verified
- Dec 2025
- First submitted
- 11 Mar 2026
- Last updated
- 16 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)
- ClinicalTrials.gov ID
- NCT07473804
- Acronym / sponsor ID
- SW2024
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 14 Apr 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 16 Mar 2026 (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.
Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening. This study examines how often these conditions occur and describes their main clinical, genetic, and treatment features.
Detailed description
Salt loss (SL) is a major cause of neonatal hospitalization and can be life-threatening if not promptly treated. It typically presents with hyponatremia (<130 mEq/L), often accompanied by hyperkalemia, hypochloremia, and metabolic acidosis. Clinical signs are nonspecific-including vomiting, irritability, hypotonia, and, in severe cases, seizures. Newborns are particularly vulnerable to electrolyte disturbances due to reduced glomerular filtration rate, immature distal nephrons, and transient aldosterone resistance.
While infectious gastroenteritis is the most common cause of neonatal SL, several endocrine disorders may present with the same clinical picture. The leading endocrine cause is primary adrenal insufficiency due to 21-hydroxylase deficiency, but other rare genetic conditions must be considered. These include aldosterone synthase deficiency, X-linked adrenal hypoplasia congenita (DAX-1/NR0B1 mutations), and types of pseudohypoaldosteronism, each characterized by impaired aldosterone production or action and early-life salt wasting.
Despite their heterogeneity, treatment generally relies on salt replacement, with mineralocorticoid and/or glucocorticoid therapy required in selected conditions. Only limited epidemiologic data exist; an Italian study (2006-2015) showed that 21-hydroxylase deficiency accounted for 37% of endocrine SL cases, while other congenital adrenal disorders contributed to 25%.
Neonatal screening programs detect 21-hydroxylase deficiency early, but other endocrine causes of SL remain unscreened and must be considered in differential diagnosis. This study aims to quantify the frequency of non-21-hydroxylase endocrine causes of neonatal SL in patients diagnosed at our center, describe their clinical, genetic, and laboratory features, review treatment strategies and outcomes, and characterize each disorder individually.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 1 year to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- All patients of both sexes born between January 1989 and December 2023 who presented with salt-loss syndrome within the first two months of life due to an endocrine cause other than 21-hydroxylase-deficient CAH, and who were evaluated at the Pediatric Unit, Pediatric Endocrinology and Metabolic Diseases Program of the IRCCS AOUBO.
Key inclusion criteria (4 listed)
- Patients with a diagnosis of endocrine-related salt loss, defined by laboratory findings of hyponatremia (serum sodium <130 mEq/L)
- Age at onset of salt loss between 0 and 60 days of life
- Patients born between January 1, 1989 and December 31, 2023 and managed at the Experimental Center
- Obtained Informed consent
Key exclusion criteria (1 listed)
- Diagnosis of 21OH ISC
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH.
Time frame: at baseline
Percentage of different endocrine causes of salt loss (%)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2026.
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neonatal Salt Loss and Congenital Adrenal Hyperplasia (CAH), run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 1 site in Italy.
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 1 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: looking for participants now, as of the sponsor's last update on 16 Mar 2026. 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 Italy. 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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Federico Baronio (00390512144816, federico.baronio@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH. (time frame: at baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Mar 2026.