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New registry aims to unlock secrets of rare diseases

NCT ID NCT06573723

Knowledge-focused Sponsor: Hospital Italiano de Buenos Aires Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis and care for these often-misunderstood conditions.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this registry could help doctors spot rare diseases earlier and better understand how they progress and respond to treatments.
What could go wrong
This is an observational study, not a treatment trial, so it won't directly test new therapies. Results depend on data quality and may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 380 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2024

Expected to finish

Dec 2034

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

People of any age, with a confirmed diagnosis of one or more rare diseases and followed up at Hospital Italiano de Buenos Aires, categorized as such according to the Orpha code from the List of Rare Diseases of the Ministry of Health of the Nation.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Clinical and/or molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome. * Must be followed at Hospital Italiano de Buenos Aires. Exclusion Criteria: \- Refusal to participate in the study or in the informed consent process.

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Conditions

The condition(s) this trial relates to.

amyloidosis congenital adrenal hyperplasia Cushing syndrome demyelinating disease eosinophilic esophagitis eosinophilic gastrointestinal disease Gaucher disease hereditary angioedema hereditary hemorrhagic telangiectasia Hirschsprung disease hypertrophic cardiomyopathy Immunoglobulin G4-Related Disease immunoglobulin G4-related sclerosing disease inborn errors of metabolism inflammatory bowel disease mastocytosis multiple endocrine neoplasia neurocutaneous syndrome paraganglioma pheochromocytoma Prader-Willi syndrome pulmonary hypertension Rare Diseases sarcoidosis telangiectasia, hereditary hemorrhagic, type 1 vascular malformation von Hippel-Lindau disease Wilson disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Amyloidosis Congenital adrenal hyperplasia Cushing syndrome Demyelinating diseases Eosinophilic gastrointestinal disorders Gaucher disease Hemorrhagic hereditary telangiectasia Hereditary angioedema HHT Hirschsprung disease Hypertrophic cardiomyopathy Immunoglobulin G4-related disease Inborn errors of metabolism Inflammatory bowel diseases Mastocytosis Multiple endocrine neoplasia Paraganglioma Phacomatosis Pheochromocytoma Prader-Willi syndrome Pulmonary hypertension Rare diseases Sarcoidosis Vascular anomalies Von Hippel-Lindau disease Wilson disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Hospital Italiano de Buenos Aires

    RECRUITING

    Buenos Aires, Buenos Aires, C1199ABB, Argentina

More trials for these conditions

Other studies related to the condition(s) this trial covers.